M36L (p.Met36Leu) variant of GATA3 (P23771)
M36L (p.Met36Leu) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
M36L (p.Met36Leu) variant details
- p.Met36Leu
- gnomAD 10-8055761-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.54
- MetaLR 0.86
- MetaSVM 0.72
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Literature evidence available