V118L (p.Val118Leu) variant of MSI1 (O43347)
V118L (p.Val118Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V118L (p.Val118Leu) variant details
- p.Val118Leu
- gnomAD rs1249650405
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available