L37R (p.Leu37Arg) variant of GALT (P07902)
L37R (p.Leu37Arg) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L37R (p.Leu37Arg) variant details
- p.Leu37Arg
- ExAC rs774933597
- gnomAD rs774933597
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available