L12F (p.Leu12Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
L12F (p.Leu12Phe) 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 provided; Familial thoracic aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs768807471
- ClinGen CA321159
- ClinVar RCV000196741
- ClinVar RCV002228869
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)