S32L (p.Ser32Leu) variant of SOCS1 (O15524)
S32L (p.Ser32Leu) in SOCS1 (O15524) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- Ensembl rs2141125364
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available