P66H (p.Pro66His) variant of GALT (P07902)
P66H (p.Pro66His) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
P66H (p.Pro66His) variant details
- p.Pro66His
- rs111033656
- ClinGen CA259335
- ClinVar RCV000767308
- ESP rs111033656
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.20
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available