P8S (p.Pro8Ser) variant of GATA3 (P23771)
P8S (p.Pro8Ser) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD 10-8055677-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.43
- MetaLR 0.84
- MetaSVM 0.69
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available