Q45E (p.Gln45Glu) variant of KRIT1 (O00522)
Q45E (p.Gln45Glu) 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 0.35 / 1. The record also includes population frequency data and structural context.
Q45E (p.Gln45Glu) variant details
- p.Gln45Glu
- ExAC rs756365172
- gnomAD rs756365172
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.10
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.82
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available