V116I (p.Val116Ile) variant of KRIT1 (O00522)
V116I (p.Val116Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V116I (p.Val116Ile) variant details
- p.Val116Ile
- ESP rs377033859
- ExAC rs377033859
- TOPMed rs377033859
- gnomAD rs377033859
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.21
- Population evidence available
- Structural context available