H15Y (p.His15Tyr) variant of GATA3 (P23771)
H15Y (p.His15Tyr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H15Y (p.His15Tyr) variant details
- p.His15Tyr
- gnomAD 10-8055698-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.78
- MetaLR 0.94
- MetaSVM 1.07
- CADD 27.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available