L152V (p.Leu152Val) variant of TYK2 (P29597)
L152V (p.Leu152Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L152V (p.Leu152Val) variant details
- p.Leu152Val
- ExAC rs745894180
- TOPMed rs745894180
- gnomAD rs745894180
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- CADD 26.90
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available