F49I (p.Phe49Ile) variant of SLC2A10 (O95528)
F49I (p.Phe49Ile) in SLC2A10 (O95528) 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 0.34 / 1. The record also includes structural context.
F49I (p.Phe49Ile) variant details
- p.Phe49Ile
- rs863223729
- ClinGen CA323587
- ClinVar RCV000199050
- Ensembl rs863223729
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.36
- MutPred 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available