D3N (p.Asp3Asn) variant of CHD7 (Q9P2D1)
D3N (p.Asp3Asn) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- gnomAD rs1357950918
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- MetaLR 0.46
- MetaSVM -0.05
- CADD 26.50
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Benign (CHARGE syndrome)
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.53