P97L (p.Pro97Leu) variant of MSI1 (O43347)
P97L (p.Pro97Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P97L (p.Pro97Leu) variant details
- p.Pro97Leu
- gnomAD rs1159725235
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.75
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available