I29M (p.Ile29Met) variant of PMP22 (Peripheral myelin protein 22)
I29M (p.Ile29Met) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I29M (p.Ile29Met) variant details
- p.Ile29Met
- 1000Genomes rs201192820
- ExAC rs201192820
- TOPMed rs201192820
- gnomAD rs201192820
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.17
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available