D1596V (p.Asp1596Val) variant of CHD7 (Q9P2D1)
D1596V (p.Asp1596Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
D1596V (p.Asp1596Val) variant details
- p.Asp1596Val
- rs1057521078
- ClinGen CA371319496
- ClinVar RCV001253219
- Ensembl rs1057521078
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.26
- MetaLR 0.43
- MetaSVM -0.21
- PolyPhen-2 0.96
- SIFT 0.04
- EVE 0.75
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)