R111H (p.Arg111His) variant of SHANK2 (Q9UPX8)
R111H (p.Arg111His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
R111H (p.Arg111His) variant details
- p.Arg111His
- rs368652424
- ClinGen CA6162146
- cosmic curated COSV10063
- ClinVar RCV002520758
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.08)
- 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)