L21P (p.Leu21Pro) variant of LMNA (Prelamin-A/C)
L21P (p.Leu21Pro) 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 Severe muscular hypotonia; Developmental regression; Relative macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1649704361
- ClinGen CA342807160
- ClinVar RCV001090180
- ClinVar RCV002298871
- Uncertain significance
- Severe muscular hypotonia; Developmental regression; Relative macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Severe muscular hypotonia; Developmental regression; Relative ma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)