G171V (p.Gly171Val) variant of PBRM1 (Protein polybromo-1)
G171V (p.Gly171Val) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G171V (p.Gly171Val) variant details
- p.Gly171Val
- cosmic curated COSV56311
- ExAC rs758198630
- TOPMed rs758198630
- gnomAD rs758198630
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available