H51Y (p.His51Tyr) variant of PRKAA1 (Q13131)
H51Y (p.His51Tyr) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- Ensembl rs2112041644
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.45
- MetaLR 0.30
- MetaSVM -0.48
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.08
- Population evidence available
- Structural context available