N428S (p.Asn428Ser) variant of FGFR3 (P22607)
N428S (p.Asn428Ser) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR3-related chondrodysplasia; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N428S (p.Asn428Ser) variant details
- p.Asn428Ser
- rs138986264
- ClinGen CA2810359
- cosmic curated COSV53425
- ClinVar RCV002227361
- Uncertain significance
- FGFR3-related chondrodysplasia; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.23
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)