S60I (p.Ser60Ile) variant of SLC22A2 (O15244)
S60I (p.Ser60Ile) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- ExAC rs756798963
- TOPMed rs756798963
- gnomAD rs756798963
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.48
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available