A342V (p.Ala342Val) variant of PDGFRB (P09619)
A342V (p.Ala342Val) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
A342V (p.Ala342Val) variant details
- p.Ala342Val
- rs2113907045
- ClinGen CA361720131
- ClinVar RCV001809103
- Ensembl rs2113907045
- Likely pathogenic
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.82
- MetaLR 0.53
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-w)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available