M1I (p.Met1Ile) variant of BTK (Tyrosine-protein kinase BTK)
M1I (p.Met1Ile) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1927172387
- ClinGen CA413939883
- ClinVar RCV001070338
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.40
- MetaLR 0.64
- MetaSVM 0.38
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.61
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0621