I9N (p.Ile9Asn) variant of PMP22 (Peripheral myelin protein 22)
I9N (p.Ile9Asn) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I9N (p.Ile9Asn) variant details
- p.Ile9Asn
- rs2508227470
- ClinGen CA398271751
- ClinVar RCV002306066
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.53
- CADD 29.30
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available