S16F (p.Ser16Phe) variant of ITPR2 (Q14571)
S16F (p.Ser16Phe) 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 0.87 / 1. The record also includes population frequency data and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs1476004438
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54385
- gnomAD rs1476004438
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available