A8G (p.Ala8Gly) variant of PLP1 (Myelin proteolipid protein)
A8G (p.Ala8Gly) in PLP1 (Myelin proteolipid protein) 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 and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- Ensembl rs2074488457
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 24.80
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available