G37S (p.Gly37Ser) variant of SORL1 (Sortilin-related receptor)
G37S (p.Gly37Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- gnomAD 11-121452440-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.33
- MetaLR 0.52
- MetaSVM 0.08
- CADD 19.10
- PolyPhen-2 0.28
- SIFT 0.46
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available