E107K (p.Glu107Lys) variant of KRIT1 (O00522)
E107K (p.Glu107Lys) in KRIT1 (O00522) 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.
E107K (p.Glu107Lys) variant details
- p.Glu107Lys
- TOPMed rs1237112169
- gnomAD rs1237112169
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.24
- CADD 25.50
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available