R3C (p.Arg3Cys) variant of SHANK2 (Q9UPX8)
R3C (p.Arg3Cys) 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 0.68 / 1. The record also includes population frequency data and published literature.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs373379917
- ClinGen CA6162193
- ClinVar RCV002520760
- 1000Genomes rs373379917
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.026)
- 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)