E68Q (p.Glu68Gln) variant of SLC12A1 (Q13621)
E68Q (p.Glu68Gln) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E68Q (p.Glu68Gln) variant details
- p.Glu68Gln
- gnomAD 15-48207921-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.23
- MetaLR 0.11
- MetaSVM -0.90
- CADD 18.80
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available