P66L (p.Pro66Leu) variant of GALT (P07902)
P66L (p.Pro66Leu) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs111033656
- ClinGen CA259337
- ClinVar RCV000022066
- ClinVar RCV000767307
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- AlphaMissense 0.20
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.10
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)