A13V (p.Ala13Val) variant of FGFR3 (P22607)
A13V (p.Ala13Val) in FGFR3 (P22607) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs772001869
- ExAC rs772001869
- gnomAD rs772001869
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.83
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available