A147V (p.Ala147Val) variant of TYK2 (P29597)
A147V (p.Ala147Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A147V (p.Ala147Val) variant details
- p.Ala147Val
- cosmic curated COSV99315
- ESP rs150331673
- ExAC rs150331673
- TOPMed rs150331673
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- CADD 26.40
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available