L31F (p.Leu31Phe) variant of GATA3 (P23771)
L31F (p.Leu31Phe) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- TOPMed rs913774132
- gnomAD rs913774132
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.35
- MetaLR 0.86
- MetaSVM 0.71
- CADD 24.30
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available