D31N (p.Asp31Asn) variant of PRKAA1 (Q13131)
D31N (p.Asp31Asn) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- ExAC rs773317301
- TOPMed rs773317301
- gnomAD rs773317301
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.04
- CADD 27.40
- PolyPhen-2 0.37
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available