L324V (p.Leu324Val) variant of FGFR3 (P22607)
L324V (p.Leu324Val) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
L324V (p.Leu324Val) variant details
- p.Leu324Val
- rs587778816
- ClinGen CA345255
- ClinVar RCV002237247
- gnomAD rs587778816
- Pathogenic/Likely pathogenic
- not provided; Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.55
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypochondroplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available