A38G (p.Ala38Gly) variant of NOTCH3 (Q9UM47)
A38G (p.Ala38Gly) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- Ensembl rs2145457357
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.47
- Population evidence available
- Structural context available