R67H (p.Arg67His) variant of GALT (P07902)
R67H (p.Arg67His) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs758430398
- ClinGen CA312560
- NCI-TCGA Cosmic COSV6659
- ClinVar RCV000634556
- Pathogenic/Likely pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 27.00
- PolyPhen-2 0.88
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)