A23V (p.Ala23Val) variant of NOTCH2 (Q04721)
A23V (p.Ala23Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- ExAC rs782502909
- gnomAD rs782502909
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available