A53G (p.Ala53Gly) variant of IL2RB (P14784)
A53G (p.Ala53Gly) in IL2RB (P14784) 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 0.14 / 1. The record also includes population frequency data.
A53G (p.Ala53Gly) variant details
- p.Ala53Gly
- rs2146244862
- ClinGen CA411429516
- ClinVar RCV001977778
- Ensembl rs2146244862
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.19
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- 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)