E34A (p.Glu34Ala) variant of KRIT1 (O00522)
E34A (p.Glu34Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- gnomAD rs1159285806
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available