A157T (p.Ala157Thr) variant of PBRM1 (Protein polybromo-1)
A157T (p.Ala157Thr) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A157T (p.Ala157Thr) variant details
- p.Ala157Thr
- cosmic curated COSV56290
- Ensembl rs2153925529
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.02
- CADD 17.80
- PolyPhen-2 0.04
- SIFT 0.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available