I79V (p.Ile79Val) variant of KRIT1 (O00522)
I79V (p.Ile79Val) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- rs116801031
- ClinGen CA4339447
- ClinVar RCV000964766
- ClinVar RCV003169482
- Likely benign
- Inborn genetic diseases; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Likely benign (Inborn genetic diseases; Cerebral cavernous malformation)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- 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)