V665A (p.Val665Ala) variant of PDGFRB (P09619)
V665A (p.Val665Ala) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acroosteolysis-keloid-like lesions-premature aging syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
V665A (p.Val665Ala) variant details
- p.Val665Ala
- rs1554108211
- ClinGen CA361764564
- ClinVar RCV000585893
- UniProt VAR 075866
- Pathogenic
- Acroosteolysis-keloid-like lesions-premature aging syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Acroosteolysis-keloid-like lesions-premature aging syndrome)
- EBI: Pathogenic (in PENTT)
- UniProt: Pathogenic (in PENTT)
- Structural context available
- Cited in: Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with… (PMID 23720404)
- Cited in: A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. (PMID 26279204)