A20P (p.Ala20Pro) variant of NOTCH2 (Q04721)
A20P (p.Ala20Pro) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- gnomAD rs1553217914
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.26
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available