V20I (p.Val20Ile) variant of STAT6 (P42226)
V20I (p.Val20Ile) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- ExAC rs774834215
- gnomAD rs774834215
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 16.80
- PolyPhen-2 0.58
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available