N666H (p.Asn666His) variant of PDGFRB (P09619)
N666H (p.Asn666His) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Acroosteolysis-keloid-like lesions-premature aging synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
N666H (p.Asn666His) variant details
- p.Asn666His
- rs797044887
- ClinGen CA204694
- ClinVar RCV000190709
- ClinVar RCV005222819
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Acroosteolysis-keloid-like lesions-premature aging synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Acroosteolysis-keloid-like lesions-prem)
- EBI: Pathogenic (in OPDKD)
- UniProt: Pathogenic (in OPDKD)
- Structural context available
- Cited in: Primary Familial Brain Calcification Overview. (PMID 20301594)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)