Q58K (p.Gln58Lys) variant of NOTCH1 (P46531)
Q58K (p.Gln58Lys) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- gnomAD rs1340326048
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available