T6P (p.Thr6Pro) variant of SLC12A2 (P55011)
T6P (p.Thr6Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T6P (p.Thr6Pro) variant details
- p.Thr6Pro
- gnomAD 5-128083970-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.35
- CADD 10.80
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available