P341T (p.Pro341Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
P341T (p.Pro341Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
P341T (p.Pro341Thr) variant details
- p.Pro341Thr
- rs2078489585
- ClinGen CA410527339
- ClinVar RCV003314086
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.11
- MetaLR 0.89
- MetaSVM 1.04
- PolyPhen-2 0.43
- SIFT 0.71
- EVE 0.18
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)