K26R (p.Lys26Arg) variant of BTK (Tyrosine-protein kinase BTK)
K26R (p.Lys26Arg) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- rs2147448262
- ClinGen CA413939551
- ClinVar RCV001374321
- Ensembl rs2147448262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.51
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0824