D80A (p.Asp80Ala) variant of NOTCH3 (Q9UM47)
D80A (p.Asp80Ala) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D80A (p.Asp80Ala) variant details
- p.Asp80Ala
- Ensembl rs1599395616
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.85
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.04
- CADD 24.10
- PolyPhen-2 0.76
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available