H13R (p.His13Arg) variant of GATA3 (P23771)
H13R (p.His13Arg) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- cosmic curated COSV60517
- gnomAD rs1399335578
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.74
- MetaLR 0.85
- MetaSVM 0.78
- CADD 27.80
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available