M48I (p.Met48Ile) variant of IL4R (P24394)
M48I (p.Met48Ile) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- cosmic curated COSV50147
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available