P73L (p.Pro73Leu) variant of MBP (Myelin basic protein)
P73L (p.Pro73Leu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- 1000Genomes rs139814021
- ESP rs139814021
- ExAC rs139814021
- TOPMed rs139814021
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available