F26L (p.Phe26Leu) variant of PRPH2 (Peripherin-2)
F26L (p.Phe26Leu) in PRPH2 (Peripherin-2) 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 0.22 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- rs1267248603
- NCI-TCGA Cosmic COSV5783
- gnomAD rs1267248603
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.14
- CADD 8.80
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available