K80E (p.Lys80Glu) variant of CHD8 (Q9HCK8)
K80E (p.Lys80Glu) in CHD8 (Q9HCK8) 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 0.56 / 1. The record also includes population frequency data.
K80E (p.Lys80Glu) variant details
- p.Lys80Glu
- rs2502016355
- ClinGen CA388890091
- ClinVar RCV003227266
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)