M83L (p.Met83Leu) variant of CHD7 (Q9P2D1)
M83L (p.Met83Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M83L (p.Met83Leu) variant details
- p.Met83Leu
- gnomAD 8-60741679-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -0.93
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available