H80R (p.His80Arg) variant of SOS2 (Son of sevenless homolog 2)
H80R (p.His80Arg) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H80R (p.His80Arg) variant details
- p.His80Arg
- ExAC rs748602123
- gnomAD rs748602123
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.43
- MetaLR 0.52
- MetaSVM -0.20
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available