E12K (p.Glu12Lys) variant of SIX1 (Homeobox protein SIX1)
E12K (p.Glu12Lys) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- rs1167753630
- ClinGen CA389911189
- ClinVar RCV003223983
- gnomAD rs1167753630
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 26.90
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.494