A56V (p.Ala56Val) variant of SLC22A1 (O15245)
A56V (p.Ala56Val) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- ExAC rs763318204
- TOPMed rs763318204
- gnomAD rs763318204
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available