E14K (p.Glu14Lys) variant of GNA11 (P29992)
E14K (p.Glu14Lys) in GNA11 (P29992) 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 0.65 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs1913318065
- ClinGen CA403299383
- ClinVar RCV003729586
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available