A157V (p.Ala157Val) variant of PBRM1 (Protein polybromo-1)
A157V (p.Ala157Val) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A157V (p.Ala157Val) variant details
- p.Ala157Val
- cosmic curated COSV56289
- Ensembl rs2153925439
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available