T74A (p.Thr74Ala) variant of SLC12A3 (P55017)
T74A (p.Thr74Ala) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T74A (p.Thr74Ala) variant details
- p.Thr74Ala
- gnomAD rs1451318386
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 4.17
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available