G13E (p.Gly13Glu) variant of PLP1 (Myelin proteolipid protein)
G13E (p.Gly13Glu) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD X-103785615-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available