N20D (p.Asn20Asp) variant of GATA3 (P23771)
N20D (p.Asn20Asp) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- gnomAD 10-8055713-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.57
- MetaLR 0.85
- MetaSVM 0.68
- CADD 25.20
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available