I79F (p.Ile79Phe) variant of KRIT1 (O00522)
I79F (p.Ile79Phe) in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I79F (p.Ile79Phe) variant details
- p.Ile79Phe
- 1000Genomes rs116801031
- ESP rs116801031
- ExAC rs116801031
- TOPMed rs116801031
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available