E42K (p.Glu42Lys) variant of ITPR2 (Q14571)
E42K (p.Glu42Lys) 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 0.67 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs1385731545
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54383
- NCI-TCGA Cosmic COSV9965
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.62
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available