V95D (p.Val95Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
V95D (p.Val95Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V95D (p.Val95Asp) variant details
- p.Val95Asp
- rs759604513
- ClinGen CA324653
- ClinVar RCV000200099
- ClinVar RCV002228868
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)