P98S (p.Pro98Ser) variant of KRIT1 (O00522)
P98S (p.Pro98Ser) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Cerebral cavernous malformation. 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.
P98S (p.Pro98Ser) variant details
- p.Pro98Ser
- rs199905288
- ClinGen CA4339421
- ClinVar RCV003356305
- ClinVar RCV005104071
- Conflicting interpretations
- Inborn genetic diseases; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Cerebral cavernous malformation)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)