V18V (p.Val18Val) variant of SLC12A2 (P55011)
V18V (p.Val18Val) in SLC12A2 (P55011) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- gnomAD 5-128084008-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.67
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available