P21S (p.Pro21Ser) variant of NOTCH3 (Q9UM47)
P21S (p.Pro21Ser) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Cerebral arteriopathy, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs1438796675
- ClinGen CA404483579
- ClinVar RCV002471895
- ClinVar RCV002569381
- Uncertain significance
- not provided; Inborn genetic diseases; Cerebral arteriopathy, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.37
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Cerebral arteriopathy, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)