A40V (p.Ala40Val) variant of NOTCH3 (Q9UM47)
A40V (p.Ala40Val) 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; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. 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.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs766139231
- ClinGen CA9263998
- ClinVar RCV001947722
- ClinVar RCV002479405
- Uncertain significance
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.39
- CADD 19.40
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)