W61C (p.Trp61Cys) variant of PMP22 (Peripheral myelin protein 22)
W61C (p.Trp61Cys) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
W61C (p.Trp61Cys) variant details
- p.Trp61Cys
- TOPMed rs1597608203
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.81
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.78
- CADD 29.20
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available