G46V (p.Gly46Val) variant of CHD7 (Q9P2D1)
G46V (p.Gly46Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- 1000Genomes rs527378833
- ExAC rs527378833
- gnomAD rs527378833
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.93
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available