L70P (p.Leu70Pro) variant of MUSK (O15146)
L70P (p.Leu70Pro) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- TOPMed rs2076206496
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -0.91
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available