D70G (p.Asp70Gly) variant of CHD7 (Q9P2D1)
D70G (p.Asp70Gly) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D70G (p.Asp70Gly) variant details
- p.Asp70Gly
- rs2487259956
- ClinGen CA371296412
- ClinVar RCV003100296
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.28
- MetaLR 0.14
- MetaSVM -0.85
- CADD 23.90
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)