A93V (p.Ala93Val) variant of NOTCH2 (Q04721)
A93V (p.Ala93Val) in NOTCH2 (Q04721) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A93V (p.Ala93Val) variant details
- p.Ala93Val
- rs368671802
- ESP rs368671802
- TOPMed rs368671802
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available