D78V (p.Asp78Val) variant of COL5A2 (Collagen alpha-2(V) chain)
D78V (p.Asp78Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D78V (p.Asp78Val) variant details
- p.Asp78Val
- rs201022138
- ClinGen CA2023173
- ClinVar RCV001765286
- ClinVar RCV002540364
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)