H47T (p.His47Thr) variant of SLC12A3 (P55017)
H47T (p.His47Thr) in SLC12A3 (P55017) is a protein-truncating 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.
H47T (p.His47Thr) variant details
- p.His47Thr
- gnomAD 16-56865371-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 23.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available