C129Y (p.Cys129Tyr) variant of KRIT1 (O00522)
C129Y (p.Cys129Tyr) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C129Y (p.Cys129Tyr) variant details
- p.Cys129Tyr
- rs764760437
- ClinGen CA4339389
- ClinVar RCV002227513
- ClinVar RCV005590002
- Uncertain significance
- Inborn genetic diseases; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.31
- CADD 25.40
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Cerebral cavernous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)