P20L (p.Pro20Leu) variant of LMNA (Prelamin-A/C)
P20L (p.Pro20Leu) 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 Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1553261858
- ClinGen CA342807133
- ClinVar RCV000626229
- ClinVar RCV003581701
- Conflicting interpretations
- Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Congenital muscular dystrophy due to LMNA mutation; Charcot-Mari)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)