L23R (p.Leu23Arg) variant of KRIT1 (O00522)
L23R (p.Leu23Arg) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, 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 0.66 / 1. The record also includes published literature and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs1799792039
- ClinGen CA368167135
- ClinVar RCV001198077
- Ensembl rs1799792039
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.73
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)