N97D (p.Asn97Asp) variant of GALT (P07902)
N97D (p.Asn97Asp) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Galactosemia; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N97D (p.Asn97Asp) variant details
- p.Asn97Asp
- rs1564100957
- ClinGen CA373279233
- ClinVar RCV000728335
- ClinVar RCV001862143
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Galactosemia; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.90
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;)
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)