V13A (p.Val13Ala) variant of PMP22 (Peripheral myelin protein 22)
V13A (p.Val13Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs1909248074
- ClinGen CA398271725
- ClinVar RCV001239205
- Ensembl rs1909248074
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.28
- MetaLR 0.50
- MetaSVM -0.13
- PolyPhen-2 0.16
- SIFT 0.03
- EVE 0.29
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)