V51I (p.Val51Ile) variant of PDGFRB (P09619)
V51I (p.Val51Ile) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Skeletal overgrowth-craniofacial dysmorph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs761086433
- ClinGen CA3508397
- ClinVar RCV003457133
- ClinVar RCV006368235
- Uncertain significance
- not provided; Inborn genetic diseases; Skeletal overgrowth-craniofacial dysmorph
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Skeletal overgrowth-crani)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- 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)