N47D (p.Asn47Asp) variant of ALPL (P05186)
N47D (p.Asn47Asp) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- gnomAD 1-21560703-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.42
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available