S125P (p.Ser125Pro) variant of PBRM1 (Protein polybromo-1)
S125P (p.Ser125Pro) 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.
S125P (p.Ser125Pro) variant details
- p.Ser125Pro
- cosmic curated COSV56300
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available