N47S (p.Asn47Ser) variant of ALPL (P05186)
N47S (p.Asn47Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- cosmic curated COSV66380
- Uncertain significance
- Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.37
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Infantile hypophosphatasia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available