V55L (p.Val55Leu) variant of SLC22A1 (O15245)
V55L (p.Val55Leu) in SLC22A1 (O15245) 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 0.48 / 1. The record also includes structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs1779948577
- ClinGen CA366343881
- ClinVar RCV004110299
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.21
- MetaLR 0.46
- MetaSVM -0.08
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available