H47R (p.His47Arg) variant of GALT (P07902)
H47R (p.His47Arg) in GALT (P07902) 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 0.82 / 1. The record also includes structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- rs2132341581
- ClinGen CA373278601
- ClinVar RCV001420875
- Ensembl rs2132341581
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.61
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available