L31V (p.Leu31Val) variant of GATA3 (P23771)
L31V (p.Leu31Val) 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 and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- TOPMed rs913774132
- gnomAD rs913774132
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.52
- MetaLR 0.90
- MetaSVM 0.96
- CADD 26.00
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available