H7Y (p.His7Tyr) variant of PRKAA2 (P54646)
H7Y (p.His7Tyr) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H7Y (p.His7Tyr) variant details
- p.His7Tyr
- gnomAD 1-56645406-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.34
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available