A16D (p.Ala16Asp) variant of LMNA (Prelamin-A/C)
A16D (p.Ala16Asp) 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 Cardiovascular phenotype; Primary dilated cardiomyopathy; Charcot-Marie-Tooth di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- rs770799870
- ClinGen CA053561
- ClinVar RCV002042071
- ClinVar RCV002489934
- Uncertain significance
- Cardiovascular phenotype; Primary dilated cardiomyopathy; Charcot-Marie-Tooth di
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Primary dilated cardiomyopathy; Charco)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)