L18V (p.Leu18Val) variant of PRKAA2 (P54646)
L18V (p.Leu18Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 1-56645439-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.23
- MetaLR 0.06
- MetaSVM -1.09
- CADD 23.20
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available