T66K (p.Thr66Lys) variant of SLC12A3 (P55017)
T66K (p.Thr66Lys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T66K (p.Thr66Lys) variant details
- p.Thr66Lys
- gnomAD 16-56865432-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- MetaLR 0.60
- MetaSVM -0.52
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available