A6T (p.Ala6Thr) variant of SHANK1 (Q9Y566)
A6T (p.Ala6Thr) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs374708018
- ClinGen CA9602267
- ClinVar RCV002674834
- ESP rs374708018
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign (in dbSNP:rs10423744)
- UniProt: Likely benign (in dbSNP:rs10423744)
- Most common in the East Asian population (allele frequency 0.00029)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)