R76W (p.Arg76Trp) variant of BAK1 (Q16611)
R76W (p.Arg76Trp) in BAK1 (Q16611) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- cosmic curated COSV62349
- ExAC rs766561404
- gnomAD rs766561404
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.14
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available