G13A (p.Gly13Ala) variant of LMNA (Prelamin-A/C)
G13A (p.Gly13Ala) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- ExAC rs781684338
- gnomAD rs781684338
- Uncertain significance
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available