T56R (p.Thr56Arg) variant of KRIT1 (O00522)
T56R (p.Thr56Arg) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T56R (p.Thr56Arg) variant details
- p.Thr56Arg
- ExAC rs753631870
- TOPMed rs753631870
- gnomAD rs753631870
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 0.00081)
- Structural context available