H31N (p.His31Asn) variant of GALT (P07902)
H31N (p.His31Asn) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
H31N (p.His31Asn) variant details
- p.His31Asn
- rs111033643
- ClinGen CA259320
- ClinVar RCV001826488
- ClinVar RCV003502508
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)