G59W (p.Gly59Trp) variant of CHD8 (Q9HCK8)
G59W (p.Gly59Trp) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
G59W (p.Gly59Trp) variant details
- p.Gly59Trp
- rs2502016579
- ClinGen CA388890541
- ClinVar RCV002299575
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available