L70F (p.Leu70Phe) variant of MUSK (O15146)
L70F (p.Leu70Phe) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99504
- Ensembl rs2076206441
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.78
- CADD 22.60
- PolyPhen-2 0.28
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available