L93P (p.Leu93Pro) variant of KRIT1 (O00522)
L93P (p.Leu93Pro) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L93P (p.Leu93Pro) variant details
- p.Leu93Pro
- TOPMed rs1235381178
- gnomAD rs1235381178
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.28
- SIFT 0.20
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available