S54N (p.Ser54Asn) variant of IL10RA (Q13651)
S54N (p.Ser54Asn) in IL10RA (Q13651) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- TOPMed rs772899933
- gnomAD rs772899933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -1.00
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available