M1T (p.Met1Thr) variant of BTK (Tyrosine-protein kinase BTK)
M1T (p.Met1Thr) 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 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs128620186
- ClinGen CA255796
- ClinVar RCV000012102
- ClinVar RCV003511976
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.14
- MetaLR 0.61
- MetaSVM 0.49
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.63
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0621
- Cited in: Discordant phenotype in siblings with X-linked agammaglobulinemia. (PMID 8644706)
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)