Y70Y (p.Tyr70Tyr) variant of SLC12A1 (Q13621)
Y70Y (p.Tyr70Tyr) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Y70Y (p.Tyr70Tyr) variant details
- p.Tyr70Tyr
- rs1413918873
- gnomAD 15-48207929-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available