S60C (p.Ser60Cys) variant of SLC22A2 (O15244)
S60C (p.Ser60Cys) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S60C (p.Ser60Cys) variant details
- p.Ser60Cys
- ExAC rs780754617
- gnomAD rs780754617
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available