A26T (p.Ala26Thr) variant of SLC12A2 (P55011)
A26T (p.Ala26Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- TOPMed rs1449986853
- gnomAD rs1449986853
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available