I42T (p.Ile42Thr) variant of KRIT1 (O00522)
I42T (p.Ile42Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- rs778226731
- ClinGen CA4339468
- ClinVar RCV001247250
- ClinVar RCV004987003
- Uncertain significance
- Cerebral cavernous malformation; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.57
- ClinVar: Uncertain significance (Cerebral cavernous malformation; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- 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)