E12D (p.Glu12Asp) variant of SIX1 (Homeobox protein SIX1)
E12D (p.Glu12Asp) in SIX1 (Homeobox protein SIX1) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.494