A16S (p.Ala16Ser) variant of LMNA (Prelamin-A/C)
A16S (p.Ala16Ser) 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 Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- rs868507025
- ClinGen CA30999057
- ClinVar RCV004016610
- Ensembl rs868507025
- Uncertain significance
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)