I9V (p.Ile9Val) variant of PMP22 (Peripheral myelin protein 22)
I9V (p.Ile9Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs138515303
- ClinGen CA8403455
- ClinVar RCV001338852
- ESP rs138515303
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.23
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)