A6V (p.Ala6Val) variant of PDGFRB (P09619)
A6V (p.Ala6Val) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Acroosteolysis-keloid-like lesions-premature aging syndrome; Skeletal overgrowth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs150173975
- ClinGen CA3508457
- NCI-TCGA Cosmic COSV5580
- ClinVar RCV002100466
- Likely benign
- Acroosteolysis-keloid-like lesions-premature aging syndrome; Skeletal overgrowth
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -0.98
- CADD 0.00
- PolyPhen-2 0.00
- ClinVar: Likely benign (Acroosteolysis-keloid-like lesions-premature aging syndrome; Ske)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.045)
- 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)