G28R (p.Gly28Arg) variant of CHD7 (Q9P2D1)
G28R (p.Gly28Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- TOPMed rs1809007006
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.46
- MetaLR 0.49
- MetaSVM 0.01
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.499