M22V (p.Met22Val) variant of TYK2 (P29597)
M22V (p.Met22Val) 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 0.06 / 1. The record also includes population frequency data and structural context.
M22V (p.Met22Val) variant details
- p.Met22Val
- rs777395821
- ClinGen CA9193891
- ClinVar RCV000645224
- ExAC rs777395821
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- REVEL 0.07
- CADD 0.29
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available