H41T (p.His41Thr) variant of SLC12A3 (P55017)
H41T (p.His41Thr) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H41T (p.His41Thr) variant details
- p.His41Thr
- gnomAD 16-56865354-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available