S44I (p.Ser44Ile) variant of IL7R (P16871)
S44I (p.Ser44Ile) in IL7R (P16871) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S44I (p.Ser44Ile) variant details
- p.Ser44Ile
- NCI-TCGA Cosmic COSV5741
- cosmic curated COSV57410
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.66
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available