S12R (p.Ser12Arg) variant of GATA3 (P23771)
S12R (p.Ser12Arg) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD 10-8055691-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.65
- MetaLR 0.86
- MetaSVM 0.74
- CADD 25.80
- PolyPhen-2 0.66
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available