H24Q (p.His24Gln) variant of NOTCH2 (Q04721)
H24Q (p.His24Gln) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H24Q (p.His24Gln) variant details
- p.His24Gln
- gnomAD rs1553217903
- Missense
- Variant Prioritization Score for Impact Estimate 0.0681
- REVEL 0.04
- CADD 4.64
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available