L13F (p.Leu13Phe) variant of COL5A1 (Collagen alpha-1(V) chain)
L13F (p.Leu13Phe) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Ehlers-Danlos syndrome, classic type; not provided. 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.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs762625123
- ClinGen CA5318179
- ClinVar RCV000458222
- ClinVar RCV001718788
- Likely benign
- not specified; Ehlers-Danlos syndrome, classic type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.22
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Likely benign (not specified; Ehlers-Danlos syndrome, classic type; not provide)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)