A48T (p.Ala48Thr) variant of CHD7 (Q9P2D1)
A48T (p.Ala48Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD 8-60741574-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -0.94
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available