A29E (p.Ala29Glu) variant of SLC12A2 (P55011)
A29E (p.Ala29Glu) 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, published literature, and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- gnomAD 5-128084040-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- CADD 14.60
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available