Q39L (p.Gln39Leu) variant of CHD7 (Q9P2D1)
Q39L (p.Gln39Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q39L (p.Gln39Leu) variant details
- p.Gln39Leu
- gnomAD 8-60741548-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.72
- CADD 23.80
- PolyPhen-2 0.35
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.347
- Literature evidence available