A6S (p.Ala6Ser) variant of SHANK1 (Q9Y566)
A6S (p.Ala6Ser) in SHANK1 (Q9Y566) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- ESP rs374708018
- ExAC rs374708018
- TOPMed rs374708018
- gnomAD rs374708018
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.01
- EBI: Likely benign (in dbSNP:rs10423744)
- UniProt: Likely benign (in dbSNP:rs10423744)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available