V122M (p.Val122Met) variant of TYK2 (P29597)
V122M (p.Val122Met) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V122M (p.Val122Met) variant details
- p.Val122Met
- TOPMed rs1238838283
- gnomAD rs1238838283
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available