F41Y (p.Phe41Tyr) variant of COL7A1 (Collagen alpha-1(VII) chain)
F41Y (p.Phe41Tyr) 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; Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
F41Y (p.Phe41Tyr) variant details
- p.Phe41Tyr
- rs1229666551
- ClinGen CA352749854
- ClinVar RCV003118115
- gnomAD rs1229666551
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- CADD 29.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)