V21L (p.Val21Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
V21L (p.Val21Leu) 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 not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- rs377112899
- ClinGen CA2381672
- ClinVar RCV001144775
- ClinVar RCV001280171
- Conflicting interpretations
- not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa
- Missense
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not provided; Recessive dystrophic epidermolysis bullosa; Epider)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)