T2A (p.Thr2Ala) variant of IL7R (P16871)
T2A (p.Thr2Ala) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- Ensembl rs1759658158
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- CADD 25.20
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available