E53A (p.Glu53Ala) variant of SLC12A1 (Q13621)
E53A (p.Glu53Ala) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- gnomAD rs1398145405
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -0.91
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available