P148L (p.Pro148Leu) variant of IRAK1 (P51617)
P148L (p.Pro148Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
P148L (p.Pro148Leu) variant details
- p.Pro148Leu
- rs375736059
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57653
- ESP rs375736059
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available