R25W (p.Arg25Trp) variant of NOTCH3 (Q9UM47)
R25W (p.Arg25Trp) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- gnomAD rs1331168157
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.39
- CADD 17.40
- PolyPhen-2 0.07
- SIFT 0.19
- Population evidence available
- Structural context available