S8C (p.Ser8Cys) variant of CHD7 (Q9P2D1)
S8C (p.Ser8Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes experimental measurements and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- rs2487256672
- ClinGen CA371295087
- ClinVar RCV002508512
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.893