V32M (p.Val32Met) variant of IL10RA (Q13651)
V32M (p.Val32Met) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- TOPMed rs920051155
- gnomAD rs920051155
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- MetaLR 0.68
- MetaSVM 0.48
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available