V68M (p.Val68Met) variant of PRKAA1 (Q13131)
V68M (p.Val68Met) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- ExAC rs762063813
- gnomAD rs762063813
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.29
- MetaLR 0.23
- MetaSVM -0.84
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available