K650T (p.Lys650Thr) variant of FGFR3 (P22607)
K650T (p.Lys650Thr) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related disorder; Achondroplasia; Crouzon syndrome-acanthosis nigricans sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K650T (p.Lys650Thr) variant details
- p.Lys650Thr
- rs121913105
- ClinGen CA345185
- cosmic curated COSV53394
- ClinVar RCV000056100
- Pathogenic
- FGFR3-related disorder; Achondroplasia; Crouzon syndrome-acanthosis nigricans sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.78
- AlphaMissense 0.98
- MetaLR 0.58
- MetaSVM 0.31
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (FGFR3-related disorder; Achondroplasia; Crouzon syndrome-acantho)
- EBI: Pathogenic (in hypochondroplasia and BLC)
- UniProt: Pathogenic (in hypochondroplasia and BLC)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Achondroplasia. (PMID 20301331)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)