R82K (p.Arg82Lys) variant of BTK (Tyrosine-protein kinase BTK)
R82K (p.Arg82Lys) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R82K (p.Arg82Lys) variant details
- p.Arg82Lys
- rs56035945
- cosmic curated COSV58123
- UniProt VAR 041676
- ExAC rs56035945
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.18
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)