K46E (p.Lys46Glu) variant of KRIT1 (O00522)
K46E (p.Lys46Glu) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Angiokeratoma corporis diffusum with arte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- rs138431665
- ClinGen CA4339466
- ClinVar RCV001158905
- ClinVar RCV001158906
- Uncertain significance
- not provided; Inborn genetic diseases; Angiokeratoma corporis diffusum with arte
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Angiokeratoma corporis di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific… (PMID 18974380)
- Cited in: Familial Cerebral Cavernous Malformations. (PMID 20301470)