V50G (p.Val50Gly) variant of ALPL (P05186)
V50G (p.Val50Gly) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V50G (p.Val50Gly) variant details
- p.Val50Gly
- gnomAD 1-21560713-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.50
- CADD 22.80
- PolyPhen-2 0.35
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available