H7H (p.His7His) variant of PRKAA2 (P54646)
H7H (p.His7His) in PRKAA2 (P54646) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H7H (p.His7His) variant details
- p.His7His
- gnomAD 1-56645408-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available