F42L (p.Phe42Leu) variant of RP2 (Protein XRP2)
F42L (p.Phe42Leu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F42L (p.Phe42Leu) variant details
- p.Phe42Leu
- NCI-TCGA Cosmic COSV5446
- ExAC rs782287231
- TOPMed rs782287231
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available