Q40R (p.Gln40Arg) variant of CHD7 (Q9P2D1)
Q40R (p.Gln40Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- gnomAD 8-60741551-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.72
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.402
- Literature evidence available