D31Y (p.Asp31Tyr) variant of PRKAA1 (Q13131)
D31Y (p.Asp31Tyr) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- ExAC rs773317301
- TOPMed rs773317301
- gnomAD rs773317301
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.38
- MetaLR 0.14
- MetaSVM -0.87
- CADD 28.70
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available