Q74R (p.Gln74Arg) variant of CHD7 (Q9P2D1)
Q74R (p.Gln74Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q74R (p.Gln74Arg) variant details
- p.Gln74Arg
- ExAC rs761139919
- gnomAD rs761139919
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- MetaLR 0.23
- MetaSVM -0.65
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available