L31P (p.Leu31Pro) variant of GATA3 (P23771)
L31P (p.Leu31Pro) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- cosmic curated COSV10968
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.73
- MetaLR 0.93
- MetaSVM 1.04
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.04
- Population evidence available
- Structural context available