N80S (p.Asn80Ser) variant of ALPL (P05186)
N80S (p.Asn80Ser) in ALPL (P05186) is a missense change. 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.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- TOPMed rs991273242
- gnomAD rs991273242
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.19
- CADD 9.40
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available