S43R (p.Ser43Arg) variant of SLC2A10 (O95528)
S43R (p.Ser43Arg) 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 0.59 / 1. The record also includes structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- rs863223734
- ClinGen CA323447
- ClinVar RCV000198918
- Ensembl rs863223734
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.36
- MetaLR 0.69
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available