D45V (p.Asp45Val) variant of NOTCH3 (Q9UM47)
D45V (p.Asp45Val) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- Ensembl rs2145451312
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.82
- CADD 27.50
- Most common in the HGDP:RUSSIAN population (allele frequency 0.042)
- Structural context available