A67T (p.Ala67Thr) variant of PMP22 (Peripheral myelin protein 22)
A67T (p.Ala67Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- rs104894623
- ClinGen CA254388
- ClinVar RCV000008956
- ClinVar RCV001173915
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in HNPP)
- UniProt: Pathogenic (in HNPP)
- Structural context available
- Cited in: HNPP due to a novel missense mutation of the PMP22 gene. (PMID 12796555)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)