G62A (p.Gly62Ala) variant of SLC22A6 (Q4U2R8)
G62A (p.Gly62Ala) 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 0.18 / 1. The record also includes population frequency data and structural context.
G62A (p.Gly62Ala) variant details
- p.Gly62Ala
- rs144803446
- ClinGen CA6059517
- ClinVar RCV004263685
- ESP rs144803446
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.02
- CADD 0.69
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available