A48V (p.Ala48Val) variant of PBRM1 (Protein polybromo-1)
A48V (p.Ala48Val) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- cosmic curated COSV99971
- gnomAD rs866121544
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.22
- CADD 28.60
- PolyPhen-2 0.38
- SIFT 0.05
- Population evidence available
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.166