E30A (p.Glu30Ala) variant of SLC12A3 (P55017)
E30A (p.Glu30Ala) in SLC12A3 (P55017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- ExAC rs757461294
- TOPMed rs757461294
- gnomAD rs757461294
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 21.40
- PolyPhen-2 0.09
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available