S25F (p.Ser25Phe) variant of KRIT1 (O00522)
S25F (p.Ser25Phe) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- rs779446044
- ClinGen CA4339489
- cosmic curated COSV56062
- ClinVar RCV002391611
- Uncertain significance
- Inborn genetic diseases; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.53
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Cerebral cavernous malformation)
- 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)