V40F (p.Val40Phe) variant of SLC22A1 (O15245)
V40F (p.Val40Phe) in SLC22A1 (O15245) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V40F (p.Val40Phe) variant details
- p.Val40Phe
- cosmic curated COSV61451
- ExAC rs753772607
- TOPMed rs753772607
- gnomAD rs753772607
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available