N49K (p.Asn49Lys) variant of ALPL (P05186)
N49K (p.Asn49Lys) in ALPL (P05186) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- 1000Genomes rs539884496
- ExAC rs539884496
- TOPMed rs539884496
- gnomAD rs539884496
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.24
- CADD 0.26
- PolyPhen-2 0.02
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available