R25P (p.Arg25Pro) variant of GALT (P07902)
R25P (p.Arg25Pro) in GALT (P07902) 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 0.66 / 1. The record also includes structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- rs886042099
- ClinGen CA10603808
- ClinVar RCV000316707
- Ensembl rs886042099
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.19
- MetaLR 0.90
- MetaSVM 0.68
- PolyPhen-2 0.10
- SIFT 0.03
- MutPred 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available