S6S (p.Ser6Ser) variant of SLC12A1 (Q13621)
S6S (p.Ser6Ser) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs1485986083
- gnomAD 15-48207737-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available