G44E (p.Gly44Glu) variant of KRIT1 (O00522)
G44E (p.Gly44Glu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- cosmic curated COSV10887
- gnomAD rs1421882812
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.66
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available