A33P (p.Ala33Pro) variant of ALPL (P05186)
A33P (p.Ala33Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs1315428192
- ClinVar RCV004586137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.86
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in HOPS)
- UniProt: Uncertain significance (in HOPS)
- Structural context available