A15V (p.Ala15Val) variant of FGFR3 (P22607)
A15V (p.Ala15Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- Ensembl rs1720154358
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.94
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available