I78V (p.Ile78Val) variant of SLC2A1 (P11166)
I78V (p.Ile78Val) in SLC2A1 (P11166) 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 0.31 / 1. The record also includes structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- rs2124450778
- ClinGen CA339961805
- ClinVar RCV001767382
- Ensembl rs2124450778
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.42
- EVE 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available