A27V (p.Ala27Val) variant of IL2RB (P14784)
A27V (p.Ala27Val) 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 0.16 / 1. The record also includes population frequency data.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs141522549
- ClinGen CA10216773
- ClinVar RCV003548048
- ESP rs141522549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.23
- CADD 1.68
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)