R5G (p.Arg5Gly) variant of NOTCH2 (Q04721)
R5G (p.Arg5Gly) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- ExAC rs781919354
- gnomAD rs781919354
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.29
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available