POF1B p.Ser150=
c.450T>A · rs146160940 · VCV3053375
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.297%, afr)
Conditions
1
POF1B-related disorder
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 0.22 | GERP 1.5, phastCons 0.011 |
| Overall | ||
| CADD | 1.361 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.297%
African / African-American · 166/55,830 alleles
Filtering AF
0.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.246%
Overall
0.0146%
171/1,171,973 alleles · rare
exomes 77/1,060,648 · genomes 94/111,325 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.297% | 336 |
| Admixed American | 0.00467% | 21,406 |
| Remaining individualsnot grpmax-eligible | 0.00433% | 23,102 |
| European (non-Finnish) | 0.000115% | 867,694 |
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
- POF1B
- Protein
- p.Ser150=
- Coding
- c.450T>A
- MANE Select
- NM_024921
- dbSNP
- rs146160940
- Type
- single nucleotide variant
- Location
- chrX:85351440 (GRCh38)
- Structure
- AlphaFold pLDDT 62.59 · 1 PDB
Disease context
POF1B-related disorder
Similar variants
- POF1B p.Gln26Ter Uncertain significance ★ same condition
- POF1B p.Gln28= Likely benign same condition
- POF1B p.Leu561= Likely benign same condition
- POF1B p.Arg468= Uncertain significance ★★ same type
- POF1B p.Met320Ile Uncertain significance ★★ ⚠ same type
- POF1B c.1566+10G>A Benign ★★ same type
- POF1B c.1764+3A>G Benign ★★ same type
- POF1B c.*1019C>A Benign ★★ 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/pof1b-p-ser150 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown