R16P (p.Arg16Pro) variant of KRIT1 (O00522)
R16P (p.Arg16Pro) 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; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs1313893193
- ClinGen CA368167186
- ClinVar RCV001305774
- ClinVar RCV002291745
- Uncertain significance
- not provided; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.79
- MetaLR 0.75
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (not provided; 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)