G46S (p.Gly46Ser) variant of SHANK2 (Q9UPX8)
G46S (p.Gly46Ser) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- rs201642016
- ClinGen CA6162175
- ClinVar RCV002520759
- ClinVar RCV005411409
- Likely benign
- not provided; Inborn genetic diseases; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.85
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided; Inborn genetic diseases; Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0014)
- 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)