K88E (p.Lys88Glu) variant of MSI1 (O43347)
K88E (p.Lys88Glu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K88E (p.Lys88Glu) variant details
- p.Lys88Glu
- ExAC rs751873020
- gnomAD rs751873020
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.52
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available