S48F (p.Ser48Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
S48F (p.Ser48Phe) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recessive dystrophic epidermolysis bullosa; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- rs2531366088
- ClinGen CA352749754
- ClinVar RCV003665476
- ClinVar RCV006269863
- Pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided
- Missense
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recessive dystrophic epidermolysis bullosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)