N540D (p.Asn540Asp) variant of FGFR3 (P22607)
N540D (p.Asn540Asp) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall stature-scolios. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
N540D (p.Asn540Asp) variant details
- p.Asn540Asp
- rs1057519049
- ClinGen CA16043904
- ClinVar RCV000415500
- ClinVar RCV001574130
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall stature-scolios
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.86
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided; Camptodactyly-tall)
- EBI: Pathogenic (in hypochondroplasia)
- UniProt: Pathogenic (in hypochondroplasia)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available