L20P (p.Leu20Pro) variant of IL15RA (Q13261)
L20P (p.Leu20Pro) in IL15RA (Q13261) 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 0.25 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs894474179
- ClinGen CA202289893
- ClinVar RCV004350300
- TOPMed rs894474179
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 25.00
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00029)
- Structural context available