L10F (p.Leu10Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
L10F (p.Leu10Phe) 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.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1346272373
- ClinGen CA352750558
- ClinVar RCV002048439
- gnomAD rs1346272373
- Uncertain significance
- not provided
- Missense
- CADD 22.80
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)