P48R (p.Pro48Arg) variant of SOCS1 (O15524)
P48R (p.Pro48Arg) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- TOPMed rs1185653650
- gnomAD rs1185653650
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.04
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available