R82I (p.Arg82Ile) variant of BTK (Tyrosine-protein kinase BTK)
R82I (p.Arg82Ile) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R82I (p.Arg82Ile) variant details
- p.Arg82Ile
- cosmic curated COSV58123
- ExAC rs56035945
- TOPMed rs56035945
- gnomAD rs56035945
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available