G93V (p.Gly93Val) variant of PMP22 (Peripheral myelin protein 22)
G93V (p.Gly93Val) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CMT1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G93V (p.Gly93Val) variant details
- p.Gly93Val
- ExAC rs757021177
- TOPMed rs757021177
- gnomAD rs757021177
- Uncertain significance
- in CMT1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.91
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance (in CMT1A)
- UniProt: Uncertain significance (in CMT1A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available