N666S (p.Asn666Ser) variant of PDGFRB (P09619)
N666S (p.Asn666Ser) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; See cases; Myeloproliferative disorder, chronic, with eosinophilia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
N666S (p.Asn666Ser) variant details
- p.Asn666Ser
- rs2113894766
- ClinGen CA361764539
- ClinVar RCV002250183
- ClinVar RCV003128852
- Pathogenic/Likely pathogenic
- not provided; See cases; Myeloproliferative disorder, chronic, with eosinophilia
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (not provided; See cases; Myeloproliferative disorder, chronic, w)
- EBI: Pathogenic (in PENTT)
- UniProt: Pathogenic (in PENTT)
- Structural context available
- Cited in: A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of… (PMID 30573803)
- Cited in: A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. (PMID 26279204)