R5C (p.Arg5Cys) variant of NOTCH2 (Q04721)
R5C (p.Arg5Cys) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- ExAC rs781919354
- gnomAD rs781919354
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available