E8A (p.Glu8Ala) variant of KRIT1 (O00522)
E8A (p.Glu8Ala) 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 0.44 / 1. The record also includes population frequency data and structural context.
E8A (p.Glu8Ala) variant details
- p.Glu8Ala
- TOPMed rs1585030516
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.31
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available