V30M (p.Val30Met) variant of PRKAA2 (P54646)
V30M (p.Val30Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- gnomAD 1-56645475-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.59
- MetaLR 0.41
- MetaSVM 0.22
- CADD 28.30
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available