V18S (p.Val18Ser) variant of SLC12A2 (P55011)
V18S (p.Val18Ser) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V18S (p.Val18Ser) variant details
- p.Val18Ser
- gnomAD 5-128084000-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available