I13V (p.Ile13Val) variant of PRKAA2 (P54646)
I13V (p.Ile13Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- ExAC rs757985759
- TOPMed rs757985759
- gnomAD rs757985759
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available