S7S (p.Ser7Ser) variant of SLC12A1 (Q13621)
S7S (p.Ser7Ser) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- gnomAD 15-48207740-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 9.76
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available