T6R (p.Thr6Arg) variant of SLC12A2 (P55011)
T6R (p.Thr6Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T6R (p.Thr6Arg) variant details
- p.Thr6Arg
- gnomAD 5-128083971-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.30
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available