N108S (p.Asn108Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
N108S (p.Asn108Ser) in COL6A3 (Collagen alpha-3(VI) 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 0.37 / 1. The record also includes published literature and structural context.
N108S (p.Asn108Ser) variant details
- p.Asn108Ser
- rs1312180883
- ClinGen CA351227529
- ClinVar RCV004437529
- TOPMed rs1312180883
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.08
- MetaLR 0.31
- MetaSVM -0.79
- PolyPhen-2 0.06
- SIFT 0.03
- MutPred 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- 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)