G25R (p.Gly25Arg) variant of CHD7 (Q9P2D1)
G25R (p.Gly25Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs759887905
- ClinGen CA4759260
- NCI-TCGA Cosmic COSV7111
- cosmic curated COSV71113
- Conflicting interpretations
- not provided; Inborn genetic diseases; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.70
- CADD 26.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.253
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)