A21G (p.Ala21Gly) variant of NOTCH2 (Q04721)
A21G (p.Ala21Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs782179651
- TOPMed rs782179651
- gnomAD rs782179651
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.13
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available