V113I (p.Val113Ile) variant of BTK (Tyrosine-protein kinase BTK)
V113I (p.Val113Ile) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- rs2147443453
- ClinGen CA413937212
- cosmic curated COSV58119
- ClinVar RCV002022737
- Uncertain significance
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.39
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.47
- EBI: Variant of uncertain significance (in XLA)
- UniProt: Uncertain significance (in XLA)
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available