L51V (p.Leu51Val) variant of TYK2 (P29597)
L51V (p.Leu51Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- gnomAD rs2042243634
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.05
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available