H84R (p.His84Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H84R (p.His84Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.25 / 1. The record also includes population frequency data.
H84R (p.His84Arg) variant details
- p.His84Arg
- ExAC rs754865574
- TOPMed rs754865574
- gnomAD rs754865574
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)