L377R (p.Leu377Arg) variant of FGFR3 (P22607)
L377R (p.Leu377Arg) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L377R (p.Leu377Arg) variant details
- p.Leu377Arg
- rs267606809
- ClinGen CA357251
- ClinVar RCV000017763
- ClinVar RCV002231193
- Uncertain significance
- not provided; FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; FGFR3-related chondrodysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. (PMID 16411219)
- Cited in: Achondroplasia. (PMID 20301331)