P216L (p.Pro216Leu) variant of IRAG1 (Q9Y6F6)
P216L (p.Pro216Leu) in IRAG1 (Q9Y6F6) 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.
P216L (p.Pro216Leu) variant details
- p.Pro216Leu
- cosmic curated COSV70211
- TOPMed rs1396680033
- gnomAD rs1396680033
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0961
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- CADD 7.21
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BASQUE population (allele frequency 0.045)
- Structural context available