G504S (p.Gly504Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G504S (p.Gly504Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondrogenesis type II; Multiple epiphyseal dysplasia, Beighton type; Spondyloe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G504S (p.Gly504Ser) variant details
- p.Gly504Ser
- rs121912880
- ClinGen CA251240
- ClinVar RCV000176384
- ClinVar RCV000622876
- Likely pathogenic
- Achondrogenesis type II; Multiple epiphyseal dysplasia, Beighton type; Spondyloe
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.96
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in SEMDSTWK)
- UniProt: Pathogenic (in SEMDSTWK)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)