L35Q (p.Leu35Gln) variant of LMNA (Prelamin-A/C)
L35Q (p.Leu35Gln) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular dystrophy due to LMNA mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- rs267607644
- ClinGen CA342807536
- ClinVar RCV003140259
- Uncertain significance
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Variant of uncertain significance (in EDMD2)
- UniProt: Uncertain significance (in EDMD2)
- Population evidence available
- Structural context available