N53K (p.Asn53Lys) variant of ALPL (P05186)
N53K (p.Asn53Lys) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- ExAC rs774859071
- gnomAD rs774859071
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.73
- CADD 14.70
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available