A108V (p.Ala108Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A108V (p.Ala108Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
A108V (p.Ala108Val) variant details
- p.Ala108Val
- 1000Genomes rs185337666
- TOPMed rs185337666
- gnomAD rs185337666
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)