L395I (p.Leu395Ile) variant of FGFR3 (P22607)
L395I (p.Leu395Ile) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
L395I (p.Leu395Ile) variant details
- p.Leu395Ile
- rs2108797528
- ClinGen CA355979201
- ClinVar RCV002227915
- Ensembl rs2108797528
- Likely pathogenic
- Achondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- AlphaMissense 0.06
- MetaLR 0.54
- MetaSVM -0.08
- PolyPhen-2 0.05
- SIFT 0.24
- EVE 0.17
- ClinVar: Likely pathogenic (Achondroplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondroplasia. (PMID 20301331)