R16C (p.Arg16Cys) variant of KRIT1 (O00522)
R16C (p.Arg16Cys) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Angiokeratoma corporis diffusum with arteriovenous fistulas; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs370360812
- ClinGen CA4339491
- cosmic curated COSV56060
- ClinVar RCV001160244
- Conflicting interpretations
- Angiokeratoma corporis diffusum with arteriovenous fistulas; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Angiokeratoma corporis diffusum with arteriovenous fistulas; Inb)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- 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)