E9V (p.Glu9Val) variant of SORL1 (Sortilin-related receptor)
E9V (p.Glu9Val) 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 and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- Ensembl rs1860812056
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- CADD 29.20
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available