G82E (p.Gly82Glu) variant of ALPL (P05186)
G82E (p.Gly82Glu) 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 0.87 / 1. The record also includes structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- rs2148152529
- ClinGen CA338878061
- ClinVar RCV001760487
- Ensembl rs2148152529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in HOPS)
- UniProt: Uncertain significance (in HOPS)
- Structural context available