D161H (p.Asp161His) variant of PBRM1 (Protein polybromo-1)
D161H (p.Asp161His) 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 0.44 / 1. The record also includes population frequency data and structural context.
D161H (p.Asp161His) variant details
- p.Asp161His
- rs769010138
- NCI-TCGA Cosmic COSV9997
- cosmic curated COSV99970
- ExAC rs769010138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.19
- CADD 26.60
- PolyPhen-2 0.75
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available