D48G (p.Asp48Gly) variant of SLC22A2 (O15244)
D48G (p.Asp48Gly) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- ExAC rs766924307
- gnomAD rs766924307
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.38
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available