D66H (p.Asp66His) variant of NOTCH2 (Q04721)
D66H (p.Asp66His) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D66H (p.Asp66His) variant details
- p.Asp66His
- TOPMed rs1652939327
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available