A18V (p.Ala18Val) variant of FGFR3 (P22607)
A18V (p.Ala18Val) in FGFR3 (P22607) 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 0.26 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- TOPMed rs1303022894
- gnomAD rs1303022894
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- MetaLR 0.22
- MetaSVM -0.85
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available