K45K (p.Lys45Lys) variant of PLP1 (Myelin proteolipid protein)
K45K (p.Lys45Lys) in PLP1 (Myelin proteolipid protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K45K (p.Lys45Lys) variant details
- p.Lys45Lys
- rs11543021
- gnomAD X-103785712-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 7.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available