H38H (p.His38His) variant of KCNJ2 (P63252)
H38H (p.His38His) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H38H (p.His38His) variant details
- p.His38His
- gnomAD 17-70175153-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 8.21
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available