L30S (p.Leu30Ser) variant of IL7R (P16871)
L30S (p.Leu30Ser) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L30S (p.Leu30Ser) variant details
- p.Leu30Ser
- Ensembl rs1759786831
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.56
- CADD 22.90
- PolyPhen-2 0.67
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available