M2R (p.Met2Arg) variant of CHD2 (O14647)
M2R (p.Met2Arg) in CHD2 (O14647) 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, published literature, and structural context.
M2R (p.Met2Arg) variant details
- p.Met2Arg
- gnomAD 15-92901242-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- MetaLR 0.69
- MetaSVM 0.55
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available