A75V (p.Ala75Val) variant of TYK2 (P29597)
A75V (p.Ala75Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- 1000Genomes rs150861764
- ESP rs150861764
- ExAC rs150861764
- gnomAD rs150861764
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.72
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available