R62L (p.Arg62Leu) variant of SLC22A2 (O15244)
R62L (p.Arg62Leu) in SLC22A2 (O15244) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R62L (p.Arg62Leu) variant details
- p.Arg62Leu
- NCI-TCGA TCGA novel
- TOPMed rs1017655480
- gnomAD rs1017655480
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available