R51Q (p.Arg51Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R51Q (p.Arg51Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs368882418
- ClinGen CA5679546
- ClinVar RCV001870378
- ClinVar RCV004039604
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)