D95N (p.Asp95Asn) variant of COL7A1 (Collagen alpha-1(VII) chain)
D95N (p.Asp95Asn) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
D95N (p.Asp95Asn) variant details
- p.Asp95Asn
- TOPMed rs2045870877
- gnomAD rs2045870877
- Missense
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.24
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 2.4e-05)