E39D (p.Glu39Asp) variant of KRIT1 (O00522)
E39D (p.Glu39Asp) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD rs1205643727
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.48
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.22
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available