L30V (p.Leu30Val) variant of NOTCH3 (Q9UM47)
L30V (p.Leu30Val) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD rs1478837820
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.35
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available