T9R (p.Thr9Arg) variant of SLC12A3 (P55017)
T9R (p.Thr9Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- gnomAD 16-56865261-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- MetaLR 0.29
- MetaSVM -0.80
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available