R123L (p.Arg123Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R123L (p.Arg123Leu) 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 0.80 / 1. The record also includes population frequency data.
R123L (p.Arg123Leu) variant details
- p.Arg123Leu
- ExAC rs775277648
- TOPMed rs775277648
- gnomAD rs775277648
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)