F157L (p.Phe157Leu) variant of MSI1 (O43347)
F157L (p.Phe157Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F157L (p.Phe157Leu) variant details
- p.Phe157Leu
- ExAC rs751436633
- gnomAD rs751436633
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.69
- CADD 16.90
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available