D6G (p.Asp6Gly) variant of GATA3 (P23771)
D6G (p.Asp6Gly) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D6G (p.Asp6Gly) variant details
- p.Asp6Gly
- cosmic curated COSV10065
- TOPMed rs1260955718
- gnomAD rs1260955718
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available