V16L (p.Val16Leu) variant of MUSK (O15146)
V16L (p.Val16Leu) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- rs765521756
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51894
- ExAC rs765521756
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.83
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available