D31N (p.Asp31Asn) variant of ALPL (P05186)
D31N (p.Asp31Asn) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs757127456
- ClinGen CA666393
- ClinVar RCV001979535
- ExAC rs757127456
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.14
- CADD 1.29
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available