G126S (p.Gly126Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
G126S (p.Gly126Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G126S (p.Gly126Ser) variant details
- p.Gly126Ser
- rs779153546
- ClinGen CA322643
- ClinVar RCV000198159
- ClinVar RCV002345701
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.75
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)