A35P (p.Ala35Pro) variant of SOCS1 (O15524)
A35P (p.Ala35Pro) 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 0.25 / 1. The record also includes population frequency data and structural context.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- rs998577469
- ClinGen CA278232800
- ClinVar RCV004213643
- TOPMed rs998577469
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available