A13V (p.Ala13Val) variant of PRKAA1 (Q13131)
A13V (p.Ala13Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- Ensembl rs2112122406
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.06
- MetaLR 0.15
- MetaSVM -0.87
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available