S70R (p.Ser70Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S70R (p.Ser70Arg) 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 0.60 / 1. The record also includes population frequency data.
S70R (p.Ser70Arg) variant details
- p.Ser70Arg
- ExAC rs775946356
- TOPMed rs775946356
- gnomAD rs775946356
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)