E48V (p.Glu48Val) variant of TYK2 (P29597)
E48V (p.Glu48Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E48V (p.Glu48Val) variant details
- p.Glu48Val
- ExAC rs777293951
- gnomAD rs777293951
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available