P179L (p.Pro179Leu) variant of PBRM1 (Protein polybromo-1)
P179L (p.Pro179Leu) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P179L (p.Pro179Leu) variant details
- p.Pro179Leu
- cosmic curated COSV10516
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available