L130V (p.Leu130Val) variant of PRKAA1 (Q13131)
L130V (p.Leu130Val) 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.
L130V (p.Leu130Val) variant details
- p.Leu130Val
- ESP rs371783627
- ExAC rs371783627
- TOPMed rs371783627
- gnomAD rs371783627
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.30
- MetaLR 0.07
- MetaSVM -1.05
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available