R106G (p.Arg106Gly) variant of KRIT1 (O00522)
R106G (p.Arg106Gly) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- ExAC rs754710526
- gnomAD rs754710526
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00081)
- Structural context available