V37S (p.Val37Ser) variant of KCNJ2 (P63252)
V37S (p.Val37Ser) in KCNJ2 (P63252) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V37S (p.Val37Ser) variant details
- p.Val37Ser
- gnomAD 17-70175147-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 29.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available