Q59R (p.Gln59Arg) variant of KRIT1 (O00522)
Q59R (p.Gln59Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q59R (p.Gln59Arg) variant details
- p.Gln59Arg
- TOPMed rs866162290
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.17
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.56
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available