P132L (p.Pro132Leu) variant of IRAK1 (P51617)
P132L (p.Pro132Leu) 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 0.37 / 1. The record also includes structural context.
P132L (p.Pro132Leu) variant details
- p.Pro132Leu
- rs2148643448
- ClinGen CA415153528
- ClinVar RCV004314310
- Ensembl rs2148643448
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.08
- MetaLR 0.28
- MetaSVM -0.75
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available