G61R (p.Gly61Arg) variant of ALPL (P05186)
G61R (p.Gly61Arg) 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 0.85 / 1. The record also includes structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- rs2148151280
- ClinGen CA338877769
- ClinVar RCV001995386
- Ensembl rs2148151280
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available