G37C (p.Gly37Cys) variant of SORL1 (Sortilin-related receptor)
G37C (p.Gly37Cys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- gnomAD 11-121452440-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.41
- MetaLR 0.70
- MetaSVM 0.44
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Literature evidence available