K20E (p.Lys20Glu) variant of GNAT1 (P11488)
K20E (p.Lys20Glu) in GNAT1 (P11488) 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 0.49 / 1. The record also includes population frequency data and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs1699414848
- ClinGen CA352908838
- ClinVar RCV003050124
- Ensembl rs1699414848
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available