A9T (p.Ala9Thr) variant of LMNA (Prelamin-A/C)
A9T (p.Ala9Thr) 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 not provided; Cardiomyopathy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs2527829229
- ClinGen CA342806038
- ClinVar RCV003052963
- ClinVar RCV003134603
- Uncertain significance
- not provided; Cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)