E138Q (p.Glu138Gln) variant of GNA13 (Q14344)
E138Q (p.Glu138Gln) in GNA13 (Q14344) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
E138Q (p.Glu138Gln) variant details
- p.Glu138Gln
- rs141288232
- ClinGen CA8717360
- cosmic curated COSV10583
- ClinVar RCV004180909
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- MetaLR 0.86
- MetaSVM 0.09
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)