APOBEC3F p.Pro191=
c.573G>A · rs33913356 · VCV781619
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.9%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -1.9 |
| Overall | ||
| CADD | 0.123 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.9%
East Asian · 1,752/44,878 alleles
Filtering AF
3.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.69%
Overall
0.419%
6,769/1,613,972 alleles · low-frequency
exomes 5,080/1,461,748 · genomes 1,689/152,224 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 3.9% | 26 |
| African / African-American | 3.18% | 31 |
| South Asian | 1.91% | 52 |
| Remaining individualsnot grpmax-eligible | 0.546% | 183 |
| Finnishnot grpmax-eligible | 0.366% | 274 |
| Admixed American | 0.175% | 571 |
| Middle Eastern | 0.0991% | 1,009 |
| European (non-Finnish) | 0.0174% | 5,756 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,602 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- APOBEC3F
- Protein
- p.Pro191=
- Coding
- c.573G>A
- MANE Select
- NM_145298
- dbSNP
- rs33913356
- Type
- single nucleotide variant
- Location
- chr22:39049431 (GRCh38)
- Gene constraint
- LOEUF 1.014 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.31 · 10 PDB
- Residue 191
- the cmp/dcmp-type deaminase 2 domain
Similar variants
- APOBEC3F p.Pro191Leu Uncertain significance ★ ⚠ same residue
- APOBEC3F p.Asn346Ser Benign/Likely benign ★★ same type
- APOBEC3F p.Glu151Asp Likely benign ★★ same type
- APOBEC3F p.Glu373Lys Likely benign ★★ same type
- APOBEC3F p.Tyr307Cys Benign ★★ ⚠ same type
- APOBEC3F c.196G>C Uncertain significance ★ ⚠ same type
- APOBEC3F p.Arg128Lys Uncertain significance ★ ⚠ same type
- APOBEC3F p.Arg143His Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/apobec3f-p-pro191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown