L353F (p.Leu353Phe) variant of RPGR (Q92834)
L353F (p.Leu353Phe) in RPGR (Q92834) 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 0.77 / 1. The record also includes population frequency data and structural context.
L353F (p.Leu353Phe) variant details
- p.Leu353Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 33.00
- PolyPhen-2 0.78
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available