M2L (p.Met2Leu) variant of CHD2 (O14647)
M2L (p.Met2Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- gnomAD 15-92901241-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- MetaLR 0.61
- MetaSVM 0.13
- CADD 24.60
- PolyPhen-2 0.65
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available