R42H (p.Arg42His) variant of BAK1 (Q16611)
R42H (p.Arg42His) 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 0.33 / 1. The record also includes population frequency data and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs1051911
- cosmic curated COSV62349
- UniProt VAR 048417
- gnomAD rs1051911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.08
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs1051911)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available