A192V (p.Ala192Val) variant of PBRM1 (Protein polybromo-1)
A192V (p.Ala192Val) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A192V (p.Ala192Val) variant details
- p.Ala192Val
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available