L5V (p.Leu5Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
L5V (p.Leu5Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epidermolysis bullosa dystrophica; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs201242396
- ClinGen CA2381684
- ClinVar RCV001146737
- ClinVar RCV002070780
- Conflicting interpretations
- Epidermolysis bullosa dystrophica; not provided
- Missense
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Epidermolysis bullosa dystrophica; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)