A26V (p.Ala26Val) variant of NOTCH3 (Q9UM47)
A26V (p.Ala26Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs1329279009
- ClinGen CA404483547
- ClinVar RCV001934548
- TOPMed rs1329279009
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.30
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available