M22R (p.Met22Arg) variant of TYK2 (P29597)
M22R (p.Met22Arg) in TYK2 (P29597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
M22R (p.Met22Arg) variant details
- p.Met22Arg
- Ensembl rs1599370160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.07
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available