P136R (p.Pro136Arg) variant of IRAK1 (P51617)
P136R (p.Pro136Arg) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar 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 0.10 / 1. The record also includes population frequency data and structural context.
P136R (p.Pro136Arg) variant details
- p.Pro136Arg
- ExAC rs782689273
- gnomAD rs782689273
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.11
- CADD 2.51
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available