P186S (p.Pro186Ser) variant of IRAG1 (Q9Y6F6)
P186S (p.Pro186Ser) in IRAG1 (Q9Y6F6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P186S (p.Pro186Ser) variant details
- p.Pro186Ser
- rs35857561
- ClinGen CA5884497
- cosmic curated COSV70211
- ClinVar RCV001609096
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.16
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs35857561)
- UniProt: Benign (in dbSNP:rs35857561)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available