S7Y (p.Ser7Tyr) variant of SLC12A1 (Q13621)
S7Y (p.Ser7Tyr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- TOPMed rs1051687018
- gnomAD rs1051687018
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.39
- MetaLR 0.57
- MetaSVM 0.39
- CADD 20.30
- PolyPhen-2 0.46
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available