N84S (p.Asn84Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
N84S (p.Asn84Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N84S (p.Asn84Ser) variant details
- p.Asn84Ser
- rs752748927
- ClinGen CA2189909
- ClinVar RCV002854169
- ClinVar RCV003143549
- Conflicting interpretations
- Inborn genetic diseases; Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -0.98
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bethlem myopathy 1A; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)