L50V (p.Leu50Val) variant of MSI1 (O43347)
L50V (p.Leu50Val) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD rs1187821952
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.44
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available