A55V (p.Ala55Val) variant of SLC22A6 (Q4U2R8)
A55V (p.Ala55Val) in SLC22A6 (Q4U2R8) 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 0.21 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs202055464
- ClinGen CA6059525
- ClinVar RCV004127358
- 1000Genomes rs202055464
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.05
- MetaLR 0.19
- MetaSVM -0.91
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available