D6N (p.Asp6Asn) variant of GATA3 (P23771)
D6N (p.Asp6Asn) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD rs1214741874
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.55
- MetaLR 0.92
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available