T56M (p.Thr56Met) variant of KRIT1 (O00522)
T56M (p.Thr56Met) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- ExAC rs753631870
- TOPMed rs753631870
- gnomAD rs753631870
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.28
- CADD 21.30
- PolyPhen-2 0.39
- SIFT 0.17
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available