R16H (p.Arg16His) variant of KRIT1 (O00522)
R16H (p.Arg16His) in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- cosmic curated COSV56059
- TOPMed rs1313893193
- gnomAD rs1313893193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.48
- AlphaMissense 0.79
- MetaLR 0.75
- MetaSVM 0.60
- CADD 27.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available