A56G (p.Ala56Gly) variant of SLC22A1 (O15245)
A56G (p.Ala56Gly) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A56G (p.Ala56Gly) variant details
- p.Ala56Gly
- ExAC rs763318204
- TOPMed rs763318204
- gnomAD rs763318204
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- CADD 18.80
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available