I98V (p.Ile98Val) variant of PMP22 (Peripheral myelin protein 22)
I98V (p.Ile98Val) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I98V (p.Ile98Val) variant details
- p.Ile98Val
- rs748778392
- ClinGen CA288098219
- ClinVar RCV002027192
- ExAC rs748778392
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.23
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)