V20A (p.Val20Ala) variant of IL4R (P24394)
V20A (p.Val20Ala) in IL4R (P24394) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- TOPMed rs1242372941
- gnomAD rs1242372941
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0643
- REVEL 0.03
- CADD 4.12
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available