L23I (p.Leu23Ile) variant of KRIT1 (O00522)
L23I (p.Leu23Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- Ensembl rs1563325257
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.37
- Population evidence available
- Structural context available