L35P (p.Leu35Pro) variant of LMNA (Prelamin-A/C)
L35P (p.Leu35Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Muscular dystrophy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs267607644
- ClinGen CA016503
- ClinVar RCV000057221
- ClinVar RCV000499410
- Conflicting interpretations
- not provided; Muscular dystrophy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Dilated cardiomyopathy 1A)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)