A20V (p.Ala20Val) variant of FGFR3 (P22607)
A20V (p.Ala20Val) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- Ensembl rs1720157105
- Uncertain significance
- FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.97
- CADD 6.26
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (FGFR3-related chondrodysplasia)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available