P56L (p.Pro56Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
P56L (p.Pro56Leu) 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; COL5A2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs765019090
- ClinGen CA2023184
- ClinVar RCV003399709
- ClinVar RCV005104300
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.56
- CADD 29.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)