G70R (p.Gly70Arg) variant of PRKAA1 (Q13131)
G70R (p.Gly70Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- gnomAD rs1744066385
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.40
- MetaLR 0.23
- MetaSVM -0.54
- CADD 27.20
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available