A14V (p.Ala14Val) variant of LMNA (Prelamin-A/C)
A14V (p.Ala14Val) 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 Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- TOPMed rs1256334293
- gnomAD rs1256334293
- Uncertain significance
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.29
- ClinVar: Uncertain significance (Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available