L62L (p.Leu62Leu) variant of GALT (P07902)
L62L (p.Leu62Leu) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L62L (p.Leu62Leu) variant details
- p.Leu62Leu
- rs1821124496
- gnomAD 9-34647192-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.15
- MetaLR 0.74
- MetaSVM 0.36
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available