M83I (p.Met83Ile) variant of CHD7 (Q9P2D1)
M83I (p.Met83Ile) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M83I (p.Met83Ile) variant details
- p.Met83Ile
- gnomAD 8-60741681-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.02
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available