P19L (p.Pro19Leu) variant of SOCS1 (O15524)
P19L (p.Pro19Leu) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs2511259988
- ClinGen CA394740835
- ClinVar RCV004094254
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.05
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available