S14P (p.Ser14Pro) variant of SOCS1 (O15524)
S14P (p.Ser14Pro) in SOCS1 (O15524) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- ExAC rs778594186
- gnomAD rs778594186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available