V113L (p.Val113Leu) variant of MSI1 (O43347)
V113L (p.Val113Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V113L (p.Val113Leu) variant details
- p.Val113Leu
- ExAC rs768605844
- gnomAD rs768605844
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.50
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available