M141T (p.Met141Thr) variant of TYK2 (P29597)
M141T (p.Met141Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M141T (p.Met141Thr) variant details
- p.Met141Thr
- rs2041749425
- ClinGen CA404018904
- ClinVar RCV003628231
- TOPMed rs2041749425
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.12
- CADD 5.87
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available