E30Q (p.Glu30Gln) variant of SLC12A3 (P55017)
E30Q (p.Glu30Gln) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- gnomAD 16-56865323-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- MetaLR 0.37
- MetaSVM -0.46
- CADD 18.20
- PolyPhen-2 0.18
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available