H13N (p.His13Asn) variant of GATA3 (P23771)
H13N (p.His13Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H13N (p.His13Asn) variant details
- p.His13Asn
- ExAC rs751464240
- gnomAD rs751464240
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.66
- MetaLR 0.88
- MetaSVM 0.88
- CADD 27.50
- PolyPhen-2 0.83
- SIFT 0.04
- Population evidence available
- Structural context available