H56R (p.His56Arg) variant of CHD7 (Q9P2D1)
H56R (p.His56Arg) 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.
H56R (p.His56Arg) variant details
- p.His56Arg
- gnomAD 8-60741599-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.91
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available