P48L (p.Pro48Leu) variant of SOCS1 (O15524)
P48L (p.Pro48Leu) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- TOPMed rs1185653650
- gnomAD rs1185653650
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available