Q24P (p.Gln24Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
Q24P (p.Gln24Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions and population frequency data.
Q24P (p.Gln24Pro) variant details
- p.Gln24Pro
- TOPMed rs929295360
- gnomAD rs929295360
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- CADD 25.90
- PolyPhen-2 0.65
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)