N55S (p.Asn55Ser) variant of SHANK2 (Q9UPX8)
N55S (p.Asn55Ser) in SHANK2 (Q9UPX8) 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 0.29 / 1. The record also includes population frequency data and published literature.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- rs781924055
- ClinGen CA6162171
- ClinVar RCV002704678
- ExAC rs781924055
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)