T6K (p.Thr6Lys) variant of SLC12A2 (P55011)
T6K (p.Thr6Lys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- gnomAD rs1759925274
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.23
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available