I121V (p.Ile121Val) variant of IRAK1 (P51617)
I121V (p.Ile121Val) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I121V (p.Ile121Val) variant details
- p.Ile121Val
- 1000Genomes rs201911518
- ESP rs201911518
- ExAC rs201911518
- TOPMed rs201911518
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.08
- CADD 7.07
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available