P162S (p.Pro162Ser) variant of IRAK1 (P51617)
P162S (p.Pro162Ser) 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 0.19 / 1. The record also includes population frequency data and structural context.
P162S (p.Pro162Ser) variant details
- p.Pro162Ser
- cosmic curated COSV57658
- ExAC rs781937652
- TOPMed rs781937652
- gnomAD rs781937652
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.32
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available