G112S (p.Gly112Ser) variant of IRAK1 (P51617)
G112S (p.Gly112Ser) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G112S (p.Gly112Ser) variant details
- p.Gly112Ser
- TOPMed rs2065764315
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 8.67
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available