M1I (p.Met1Ile) variant of FGFR3 (P22607)
M1I (p.Met1Ile) 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 0.38 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1560384106
- ClinGen CA355985074
- ClinVar RCV002236400
- ClinGen CA355985078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- MetaLR 0.33
- MetaSVM -0.59
- PolyPhen-2 0.05
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available