R9G (p.Arg9Gly) variant of PLP1 (Myelin proteolipid protein)
R9G (p.Arg9Gly) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD X-103785602-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 25.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available