H15P (p.His15Pro) variant of GATA3 (P23771)
H15P (p.His15Pro) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
H15P (p.His15Pro) variant details
- p.His15Pro
- gnomAD rs978374011
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.82
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.20
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.1)
- Structural context available