I8M (p.Ile8Met) variant of SLC2A4 (P14672)
I8M (p.Ile8Met) in SLC2A4 (P14672) 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 0.35 / 1. The record also includes population frequency data and structural context.
I8M (p.Ile8Met) variant details
- p.Ile8Met
- rs1597598561
- Ensembl rs1597598561
- ClinGen CA397769577
- cosmic curated COSV10516
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.37
- MetaLR 0.25
- MetaSVM -0.83
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available