P52R (p.Pro52Arg) variant of GALT (P07902)
P52R (p.Pro52Arg) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs2132341621
- ClinGen CA373278632
- ClinVar RCV001526915
- ClinVar RCV004793509
- Conflicting interpretations
- not specified; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyly
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Deficiency of UDPglucose-hexose-1-p)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available