Q51R (p.Gln51Arg) variant of CHD7 (Q9P2D1)
Q51R (p.Gln51Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- rs1809015487
- ClinGen CA371296017
- ClinVar RCV001226583
- Ensembl rs1809015487
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.30
- MetaLR 0.14
- MetaSVM -0.81
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)