E34D (p.Glu34Asp) variant of KRIT1 (O00522)
E34D (p.Glu34Asp) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- Ensembl rs1799781432
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.22
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available