S22L (p.Ser22Leu) variant of LMNA (Prelamin-A/C)
S22L (p.Ser22Leu) 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 Charcot-Marie-Tooth disease type 2; not provided; Dilated cardiomyopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs1016767319
- ClinGen CA30999069
- cosmic curated COSV10742
- ClinVar RCV000712226
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not provided; Dilated cardiomyopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 29.30
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided; Dilated cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)