A6P (p.Ala6Pro) variant of SHANK1 (Q9Y566)
A6P (p.Ala6Pro) in SHANK1 (Q9Y566) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- ESP rs374708018
- ExAC rs374708018
- TOPMed rs374708018
- gnomAD rs374708018
- Likely benign
- Missense
- EBI: Likely benign (in dbSNP:rs10423744)
- UniProt: Likely benign (in dbSNP:rs10423744)
- Structural context available