L99Q (p.Leu99Gln) variant of KRIT1 (O00522)
L99Q (p.Leu99Gln) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L99Q (p.Leu99Gln) variant details
- p.Leu99Gln
- rs1445866560
- ClinGen CA368164574
- ClinVar RCV001061809
- gnomAD rs1445866560
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.53
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)