P36A (p.Pro36Ala) variant of SOCS1 (O15524)
P36A (p.Pro36Ala) 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 0.23 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs867464575
- ClinGen CA278232799
- ClinVar RCV004150412
- TOPMed rs867464575
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.07
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available