A88D (p.Ala88Asp) variant of NOTCH2 (Q04721)
A88D (p.Ala88Asp) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A88D (p.Ala88Asp) variant details
- p.Ala88Asp
- gnomAD rs1553206149
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.82
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available