N116K (p.Asn116Lys) variant of COL7A1 (Collagen alpha-1(VII) chain)
N116K (p.Asn116Lys) 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.
N116K (p.Asn116Lys) variant details
- p.Asn116Lys
- rs773412676
- ClinGen CA2381574
- ClinVar RCV003881929
- ExAC rs773412676
- Uncertain significance
- not provided
- Missense
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available