S32R (p.Ser32Arg) variant of GATA3 (P23771)
S32R (p.Ser32Arg) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- gnomAD 10-8055751-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- MetaLR 0.78
- MetaSVM 0.08
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Literature evidence available