A9V (p.Ala9Val) variant of TYK2 (P29597)
A9V (p.Ala9Val) 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.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- ExAC rs773382803
- gnomAD rs773382803
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.19
- CADD 13.30
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available