F14S (p.Phe14Ser) variant of SORL1 (Sortilin-related receptor)
F14S (p.Phe14Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F14S (p.Phe14Ser) variant details
- p.Phe14Ser
- TOPMed rs1194166545
- gnomAD rs1194166545
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available