K42E (p.Lys42Glu) variant of GNAT1 (P11488)
K42E (p.Lys42Glu) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital stationary night blindness 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- TOPMed rs1699439647
- gnomAD rs1699439647
- Likely pathogenic
- Congenital stationary night blindness 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Congenital stationary night blindness 1C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available