H59Q (p.His59Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H59Q (p.His59Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
H59Q (p.His59Gln) variant details
- p.His59Gln
- ExAC rs765954490
- TOPMed rs765954490
- gnomAD rs765954490
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 13.00
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)