R77H (p.Arg77His) variant of ACAN (Aggrecan core protein)
R77H (p.Arg77His) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Osteochondritis dissecans; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R77H (p.Arg77His) variant details
- p.Arg77His
- rs199701329
- ClinGen CA7719175
- ClinVar RCV000514420
- ClinVar RCV000989369
- Conflicting interpretations
- not provided; Osteochondritis dissecans; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteochondritis dissecans; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)