R9C (p.Arg9Cys) variant of GATA3 (P23771)
R9C (p.Arg9Cys) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- cosmic curated COSV60517
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available