G37R (p.Gly37Arg) variant of SORL1 (Sortilin-related receptor)
G37R (p.Gly37Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- gnomAD 11-121452440-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.33
- MetaLR 0.65
- MetaSVM 0.35
- CADD 22.80
- PolyPhen-2 0.82
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available