R20L (p.Arg20Leu) variant of SOCS1 (O15524)
R20L (p.Arg20Leu) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- cosmic curated COSV59660
- ExAC rs767406182
- TOPMed rs767406182
- gnomAD rs767406182
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.07
- CADD 27.30
- PolyPhen-2 0.59
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available