G341D (p.Gly341Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
G341D (p.Gly341Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G341D (p.Gly341Asp) variant details
- p.Gly341Asp
- rs121912935
- ClinGen CA257736
- NCI-TCGA Cosmic COSV6261
- cosmic curated COSV62611
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (PMID 11865138)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)