Y97C (p.Tyr97Cys) variant of PMP22 (Peripheral myelin protein 22)
Y97C (p.Tyr97Cys) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y97C (p.Tyr97Cys) variant details
- p.Tyr97Cys
- gnomAD 17-15239500-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.72
- CADD 28.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available