CYP2F1 p.Arg370=
c.1110C>T · rs115159306 · VCV785626
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.15%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.122 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -3.7 |
| Overall | ||
| CADD | 6.596 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.15%
African / African-American · 3,108/74,976 alleles
Filtering AF
4.02%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.97%
Overall
0.45%
7,256/1,610,748 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.15% | 24 |
| Ashkenazi Jewishnot grpmax-eligible | 4.06% | 25 |
| Remaining individualsnot grpmax-eligible | 0.639% | 157 |
| Admixed American | 0.402% | 249 |
| Middle Eastern | 0.189% | 528 |
| European (non-Finnish) | 0.185% | 542 |
| Finnishnot grpmax-eligible | 0.174% | 576 |
| South Asian | 0.0154% | 6,495 |
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
- CYP2F1
- Protein
- p.Arg370=
- Coding
- c.1110C>T
- MANE Select
- NM_000774
- dbSNP
- rs115159306
- Type
- single nucleotide variant
- Location
- chr19:41124864 (GRCh38)
- Gene constraint
- LOEUF 1.155 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.38
Similar variants
- CYP2F1 c.335-8C>G Benign ★★ same type
- CYP2F1 p.Arg98Pro Benign ★★ same type
- CYP2F1 p.Gln266His Benign ★★ same type
- CYP2F1 p.Leu391Pro Benign ★★ ⚠ same type
- CYP2F1 p.Val175Gly Benign ★★ ⚠ same type
- CYP2F1 p.Val175Leu Benign ★★ ⚠ same type
- CYP2F1 p.Ala114Thr Uncertain significance ★ ⚠ same type
- CYP2F1 p.Ala14Val 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/cyp2f1-p-arg370 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown