P48S (p.Pro48Ser) variant of SOCS1 (O15524)
P48S (p.Pro48Ser) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- TOPMed rs1300398340
- gnomAD rs1300398340
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available