N80K (p.Asn80Lys) variant of ALPL (P05186)
N80K (p.Asn80Lys) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N80K (p.Asn80Lys) variant details
- p.Asn80Lys
- ExAC rs756611513
- gnomAD rs756611513
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- CADD 7.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available