R9S (p.Arg9Ser) variant of GATA3 (P23771)
R9S (p.Arg9Ser) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 10-8055680-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available