L85Q (p.Leu85Gln) variant of NOTCH2 (Q04721)
L85Q (p.Leu85Gln) in NOTCH2 (Q04721) 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.
L85Q (p.Leu85Gln) variant details
- p.Leu85Gln
- Ensembl rs1557843126
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available