L29M (p.Leu29Met) variant of LMNA (Prelamin-A/C)
L29M (p.Leu29Met) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- TOPMed rs1038281766
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available