Y376H (p.Tyr376His) variant of LMNA (Prelamin-A/C)
Y376H (p.Tyr376His) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
Y376H (p.Tyr376His) variant details
- p.Tyr376His
- rs1131691263
- ClinGen CA342820546
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10073
- Likely pathogenic
- not provided; Limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Limb-girdle muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)