V11E (p.Val11Glu) variant of GATA3 (P23771)
V11E (p.Val11Glu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V11E (p.Val11Glu) variant details
- p.Val11Glu
- Ensembl rs1564397170
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.75
- MetaLR 0.84
- MetaSVM 0.73
- CADD 26.50
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available