G101R (p.Gly101Arg) variant of KRIT1 (O00522)
G101R (p.Gly101Arg) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- rs1057521140
- ClinGen CA16605918
- ClinVar RCV000427958
- ClinVar RCV002519528
- Conflicting interpretations
- not provided; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.22
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.18
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cerebral cavernous malformation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)