S60N (p.Ser60Asn) variant of SLC22A2 (O15244)
S60N (p.Ser60Asn) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- ExAC rs756798963
- TOPMed rs756798963
- gnomAD rs756798963
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available