F92L (p.Phe92Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
F92L (p.Phe92Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
F92L (p.Phe92Leu) variant details
- p.Phe92Leu
- rs746563255
- ClinGen CA352748911
- ClinVar RCV002265154
- ExAC rs746563255
- Uncertain significance
- not provided
- Missense
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)