P172L (p.Pro172Leu) variant of IRAK1 (P51617)
P172L (p.Pro172Leu) 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 0.14 / 1. The record also includes population frequency data and structural context.
P172L (p.Pro172Leu) variant details
- p.Pro172Leu
- TOPMed rs936051251
- gnomAD rs936051251
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.11
- CADD 9.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available