G28A (p.Gly28Ala) variant of CHD7 (Q9P2D1)
G28A (p.Gly28Ala) in CHD7 (Q9P2D1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD rs1809007164
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- MetaLR 0.36
- MetaSVM -0.58
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.499