L71F (p.Leu71Phe) variant of GALT (P07902)
L71F (p.Leu71Phe) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- 1000Genomes rs143994870
- ESP rs143994870
- ExAC rs143994870
- TOPMed rs143994870
- Conflicting interpretations
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.51
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available