A54V (p.Ala54Val) variant of IL23R (Interleukin-23 receptor)
A54V (p.Ala54Val) in IL23R (Interleukin-23 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs2525202946
- ClinGen CA340732296
- ClinVar RCV003678143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.31
- CADD 22.20
- PolyPhen-2 0.67
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available