G88E (p.Gly88Glu) variant of KRIT1 (O00522)
G88E (p.Gly88Glu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G88E (p.Gly88Glu) variant details
- p.Gly88Glu
- TOPMed rs899688735
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.57
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available