S95C (p.Ser95Cys) variant of PRKAA1 (Q13131)
S95C (p.Ser95Cys) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S95C (p.Ser95Cys) variant details
- p.Ser95Cys
- TOPMed rs201964697
- gnomAD rs201964697
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.51
- MetaLR 0.25
- MetaSVM -0.56
- CADD 26.90
- PolyPhen-2 0.49
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available