V14M (p.Val14Met) variant of FGFR3 (P22607)
V14M (p.Val14Met) 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 0.28 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs1048857045
- ClinGen CA91266059
- ClinVar RCV003032855
- TOPMed rs1048857045
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.90
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available