A12T (p.Ala12Thr) variant of SLC12A2 (P55011)
A12T (p.Ala12Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 5-128083988-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.27
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available