V55L (p.Val55Leu) variant of PRKAA1 (Q13131)
V55L (p.Val55Leu) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- ExAC rs777461699
- gnomAD rs777461699
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- MetaLR 0.08
- MetaSVM -1.03
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available