A9P (p.Ala9Pro) variant of LMNA (Prelamin-A/C)
A9P (p.Ala9Pro) 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 Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- rs2527829229
- ClinGen CA342806042
- ClinVar RCV003029877
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.12
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)