C6G (p.Cys6Gly) variant of PLP1 (Myelin proteolipid protein)
C6G (p.Cys6Gly) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C6G (p.Cys6Gly) variant details
- p.Cys6Gly
- ExAC rs763376651
- gnomAD rs763376651
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available