I24M (p.Ile24Met) variant of PMP22 (Peripheral myelin protein 22)
I24M (p.Ile24Met) in PMP22 (Peripheral myelin protein 22) 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 I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
I24M (p.Ile24Met) variant details
- p.Ile24Met
- rs371373574
- ClinGen CA398271663
- ClinVar RCV001752044
- ClinVar RCV003581799
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.22
- MetaLR 0.69
- MetaSVM 0.25
- PolyPhen-2 0.99
- SIFT 0.11
- EVE 0.37
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)