T6A (p.Thr6Ala) variant of SLC12A2 (P55011)
T6A (p.Thr6Ala) 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, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 5-128083970-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.26
- CADD 6.60
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available