Y72C (p.Tyr72Cys) variant of CHD7 (Q9P2D1)
Y72C (p.Tyr72Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CHARGE syndrome; not provided. 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.
Y72C (p.Tyr72Cys) variant details
- p.Tyr72Cys
- rs767819417
- ClinGen CA4759275
- NCI-TCGA Cosmic COSV7111
- cosmic curated COSV71111
- Conflicting interpretations
- CHARGE syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.84
- CADD 25.80
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CHARGE syndrome; not provided)
- EBI: Benign (in CHARGES)
- UniProt: Benign (in CHARGES)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)
- Cited in: CHD7 Disorder. (PMID 20301296)