R26Q (p.Arg26Gln) variant of KRIT1 (O00522)
R26Q (p.Arg26Gln) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs34358665
- ClinGen CA4339488
- cosmic curated COSV56059
- ClinVar RCV000266475
- Benign/Likely benign
- Angiokeratoma corporis diffusum with arteriovenous fistulas; Cerebral cavernous
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.16
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.67
- ClinVar: Benign/Likely benign (Angiokeratoma corporis diffusum with arteriovenous fistulas; Cer)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- 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)