M119V (p.Met119Val) variant of STAT6 (P42226)
M119V (p.Met119Val) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M119V (p.Met119Val) variant details
- p.Met119Val
- gnomAD rs1245688836
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.07
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available