A5V (p.Ala5Val) variant of FGFR3 (P22607)
A5V (p.Ala5Val) 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.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs2546775355
- ClinGen CA355985174
- ClinVar RCV003727457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.62
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available