F13L (p.Phe13Leu) variant of RHO (Rhodopsin)
F13L (p.Phe13Leu) in RHO (Rhodopsin) 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 0.33 / 1. The record also includes population frequency data and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.30
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available