R20Q (p.Arg20Gln) variant of SOS2 (Son of sevenless homolog 2)
R20Q (p.Arg20Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- TOPMed rs1436943286
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- MetaLR 0.52
- MetaSVM -0.02
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available