A5V (p.Ala5Val) variant of GATA3 (P23771)
A5V (p.Ala5Val) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- Ensembl rs2131482130
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.46
- MetaLR 0.85
- MetaSVM 0.82
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.06
- Population evidence available
- Structural context available