R88H (p.Arg88His) variant of BAK1 (Q16611)
R88H (p.Arg88His) in BAK1 (Q16611) 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 0.43 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- rs778171445
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62349
- ExAC rs778171445
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.23
- CADD 27.30
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available