E160K (p.Glu160Lys) variant of PBRM1 (Protein polybromo-1)
E160K (p.Glu160Lys) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E160K (p.Glu160Lys) variant details
- p.Glu160Lys
- NCI-TCGA Cosmic COSV5629
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.03
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available