V3L (p.Val3Leu) variant of GATA3 (P23771)
V3L (p.Val3Leu) 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 published literature.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 10-8055662-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.61
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Literature evidence available