Y331C (p.Tyr331Cys) variant of KRIT1 (O00522)
Y331C (p.Tyr331Cys) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y331C (p.Tyr331Cys) variant details
- p.Tyr331Cys
- rs1350475816
- ClinGen CA368153898
- ClinVar RCV001844368
- gnomAD rs1350475816
- Pathogenic
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.46
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Pathogenic (Cerebral cavernous malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:XIBO population (allele frequency 0.56)
- 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)