D139V (p.Asp139Val) variant of PRKAA1 (Q13131)
D139V (p.Asp139Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D139V (p.Asp139Val) variant details
- p.Asp139Val
- TOPMed rs966217070
- gnomAD rs966217070
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.81
- MetaLR 0.36
- MetaSVM -0.30
- CADD 32.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available