L27Q (p.Leu27Gln) variant of NOTCH3 (Q9UM47)
L27Q (p.Leu27Gln) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- Ensembl rs2047006980
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.52
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available