A127G (p.Ala127Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A127G (p.Ala127Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
A127G (p.Ala127Gly) variant details
- p.Ala127Gly
- ESP rs369673766
- ExAC rs369673766
- TOPMed rs369673766
- gnomAD rs369673766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)