S14N (p.Ser14Asn) variant of PBRM1 (Protein polybromo-1)
S14N (p.Ser14Asn) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- cosmic curated COSV10963
- ExAC rs757435999
- TOPMed rs757435999
- gnomAD rs757435999
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.71
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.158