S34P (p.Ser34Pro) variant of GATA3 (P23771)
S34P (p.Ser34Pro) 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.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- gnomAD 10-8055755-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.61
- MetaLR 0.82
- MetaSVM 0.62
- CADD 23.60
- PolyPhen-2 0.21
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available