L40F (p.Leu40Phe) variant of PLP1 (Myelin proteolipid protein)
L40F (p.Leu40Phe) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- cosmic curated COSV10515
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available