R90Q (p.Arg90Gln) variant of KRIT1 (O00522)
R90Q (p.Arg90Gln) 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.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- ExAC rs747189196
- gnomAD rs747189196
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.49
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available