Q56K (p.Gln56Lys) variant of PLP1 (Myelin proteolipid protein)
Q56K (p.Gln56Lys) 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, published literature, and structural context.
Q56K (p.Gln56Lys) variant details
- p.Gln56Lys
- gnomAD X-103785743-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 22.40
- PolyPhen-2 0.98
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available