A54V (p.Ala54Val) variant of IL1RAPL1 (Q9NZN1)
A54V (p.Ala54Val) in IL1RAPL1 (Q9NZN1) 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 0.63 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- TOPMed rs1932227016
- gnomAD rs1932227016
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.57
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available