D10E (p.Asp10Glu) variant of KCNJ3 (P48549)
D10E (p.Asp10Glu) in KCNJ3 (P48549) 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 0.39 / 1. The record also includes population frequency data and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- Ensembl rs866557536
- NCI-TCGA Cosmic COSV5453
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99715
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.29
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available