L10F (p.Leu10Phe) variant of FGFR3 (P22607)
L10F (p.Leu10Phe) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs918934226
- ClinGen CA91266055
- cosmic curated COSV10605
- ClinVar RCV002237206
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.14
- MetaLR 0.24
- MetaSVM -0.91
- CADD 7.83
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available