F14L (p.Phe14Leu) variant of SORL1 (Sortilin-related receptor)
F14L (p.Phe14Leu) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- NCI-TCGA Cosmic COSV9949
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available