D123G (p.Asp123Gly) variant of PRKAA1 (Q13131)
D123G (p.Asp123Gly) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D123G (p.Asp123Gly) variant details
- p.Asp123Gly
- TOPMed rs1195866028
- gnomAD rs1195866028
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.26
- MetaLR 0.07
- MetaSVM -1.11
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available