P16H (p.Pro16His) variant of GATA3 (P23771)
P16H (p.Pro16His) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P16H (p.Pro16His) variant details
- p.Pro16His
- cosmic curated COSV10466
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.41
- MetaLR 0.81
- MetaSVM 0.56
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available