S2S (p.Ser2Ser) variant of SLC12A1 (Q13621)
S2S (p.Ser2Ser) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 15-48207725-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.21
- Population evidence available
- Structural context available
- Literature evidence available