D80V (p.Asp80Val) variant of NOTCH3 (Q9UM47)
D80V (p.Asp80Val) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and structural context.
D80V (p.Asp80Val) variant details
- p.Asp80Val
- Ensembl rs1599395616
- Likely pathogenic
- Missense
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available