V43F (p.Val43Phe) variant of PRKAA1 (Q13131)
V43F (p.Val43Phe) 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.
V43F (p.Val43Phe) variant details
- p.Val43Phe
- TOPMed rs1398359834
- gnomAD rs1398359834
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.21
- MetaLR 0.05
- MetaSVM -1.09
- CADD 28.60
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available