A3V (p.Ala3Val) variant of FGFR3 (P22607)
A3V (p.Ala3Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 4-1793942-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.24
- MetaLR 0.24
- MetaSVM -0.89
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available