V95L (p.Val95Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
V95L (p.Val95Leu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V95L (p.Val95Leu) variant details
- p.Val95Leu
- rs1200990468
- ClinGen CA349867499
- ClinVar RCV000507073
- ClinVar RCV001857262
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)