F111L (p.Phe111Leu) variant of KRIT1 (O00522)
F111L (p.Phe111Leu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F111L (p.Phe111Leu) variant details
- p.Phe111Leu
- ExAC rs765675250
- gnomAD rs765675250
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available