R565C (p.Arg565Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
R565C (p.Arg565Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip dysplasia; Legg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R565C (p.Arg565Cys) variant details
- p.Arg565Cys
- rs121912884
- ClinGen CA281746
- cosmic curated COSV61528
- ClinVar RCV000018926
- Pathogenic/Likely pathogenic
- Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip dysplasia; Legg
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- CADD 29.90
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Stickler syndrome, type I, nonsyndromic ocular; Namaqualand hip)
- EBI: Pathogenic (in STL1)
- UniProt: Pathogenic (in STL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X… (PMID 11007540)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)