V43A (p.Val43Ala) variant of PRKAA1 (Q13131)
V43A (p.Val43Ala) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- TOPMed rs1205168457
- gnomAD rs1205168457
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- MetaLR 0.05
- MetaSVM -1.11
- CADD 25.50
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available