A16P (p.Ala16Pro) variant of SOCS1 (O15524)
A16P (p.Ala16Pro) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SOCS1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- rs537872317
- ClinGen CA7902322
- cosmic curated COSV59660
- ClinVar RCV003399708
- Uncertain significance
- SOCS1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.03
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (SOCS1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available