Q18H (p.Gln18His) variant of SLC2A4 (P14672)
Q18H (p.Gln18His) in SLC2A4 (P14672) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD rs2072417661
- NCI-TCGA Cosmic COSV9914
- cosmic curated COSV99142
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.29
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available