A165V (p.Ala165Val) variant of IRAK1 (P51617)
A165V (p.Ala165Val) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A165V (p.Ala165Val) variant details
- p.Ala165Val
- rs782295969
- ClinGen CA10558327
- ClinVar RCV004294356
- ExAC rs782295969
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available