A34V (p.Ala34Val) variant of NOTCH3 (Q9UM47)
A34V (p.Ala34Val) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD rs1177819313
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.32
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Ashkenazi Jewish population (allele frequency 6e-05)
- Structural context available