E53Q (p.Glu53Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E53Q (p.Glu53Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- rs1204758676
- TOPMed rs1204758676
- gnomAD rs1204758676
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)