R137I (p.Arg137Ile) variant of ITPR2 (Q14571)
R137I (p.Arg137Ile) in ITPR2 (Q14571) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R137I (p.Arg137Ile) variant details
- p.Arg137Ile
- rs1350039311
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54383
- gnomAD rs1350039311
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- CADD 27.20
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available