M2T (p.Met2Thr) variant of CHD2 (O14647)
M2T (p.Met2Thr) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- gnomAD 15-92901242-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.52
- MetaLR 0.69
- MetaSVM 0.54
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available