K18E (p.Lys18Glu) variant of KRIT1 (O00522)
K18E (p.Lys18Glu) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- gnomAD rs1281022025
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.47
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available