G176A (p.Gly176Ala) variant of PBRM1 (Protein polybromo-1)
G176A (p.Gly176Ala) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G176A (p.Gly176Ala) variant details
- p.Gly176Ala
- cosmic curated COSV56304
- ExAC rs752499912
- gnomAD rs752499912
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.03
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available