N108D (p.Asn108Asp) variant of COL6A3 (Collagen alpha-3(VI) chain)
N108D (p.Asn108Asp) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N108D (p.Asn108Asp) variant details
- p.Asn108Asp
- rs2078395425
- ClinGen CA351227536
- ClinVar RCV001343769
- ClinVar RCV005642516
- Uncertain significance
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.37
- MetaLR 0.42
- MetaSVM -0.47
- CADD 22.20
- PolyPhen-2 0.41
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)