R48G (p.Arg48Gly) variant of BTK (Tyrosine-protein kinase BTK)
R48G (p.Arg48Gly) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- cosmic curated COSV10461
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.49
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.969