S5G (p.Ser5Gly) variant of SORL1 (Sortilin-related receptor)
S5G (p.Ser5Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- 1000Genomes rs566484311
- TOPMed rs566484311
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available