L80V (p.Leu80Val) variant of COL5A2 (Collagen alpha-2(V) chain)
L80V (p.Leu80Val) 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 not specified; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs746454126
- ClinGen CA2023172
- ClinVar RCV001285617
- ClinVar RCV002230794
- Conflicting interpretations
- not specified; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.16
- CADD 17.40
- PolyPhen-2 0.08
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; Ehlers-Danlos syndrome, classic type, 1; Ehlers-D)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)