A29T (p.Ala29Thr) variant of SLC12A2 (P55011)
A29T (p.Ala29Thr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD rs1242333495
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- CADD 11.80
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 6.8e-05)
- Structural context available