H45P (p.His45Pro) variant of NOTCH2 (Q04721)
H45P (p.His45Pro) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H45P (p.His45Pro) variant details
- p.His45Pro
- gnomAD rs1410246337
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.60
- SIFT 0.99
- Most common in the African/African-American population (allele frequency 8e-05)
- Structural context available