Y29C (p.Tyr29Cys) variant of CHD7 (Q9P2D1)
Y29C (p.Tyr29Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia. The record also includes variant effect predictions, experimental measurements, and structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- Uncertain significance
- CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- MetaLR 0.29
- MetaSVM -0.47
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without)
- UniProt: Uncertain significance
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.416