P36L (p.Pro36Leu) variant of GALT (P07902)
P36L (p.Pro36Leu) 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 0.87 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs111033645
- ClinGen CA241292
- ClinVar RCV000175533
- ClinVar RCV005430938
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.91
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available