S12N (p.Ser12Asn) variant of GATA3 (P23771)
S12N (p.Ser12Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 10-8055690-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.42
- MetaLR 0.88
- MetaSVM 0.89
- CADD 26.40
- PolyPhen-2 0.46
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available