N53S (p.Asn53Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
N53S (p.Asn53Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs772466271
- ClinGen CA2381632
- ClinVar RCV000299092
- ClinVar RCV004701437
- Uncertain significance
- Missense
- CADD 27.30
- PolyPhen-2 0.95
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)