V12V (p.Val12Val) variant of KCNJ2 (P63252)
V12V (p.Val12Val) in KCNJ2 (P63252) is a synonymous 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.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs1169880303
- gnomAD 17-70175075-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 5.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available