S55L (p.Ser55Leu) variant of PDGFRB (P09619)
S55L (p.Ser55Leu) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Acroosteolysis-keloid-like lesions-premat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- rs147952898
- ClinGen CA3508396
- ClinVar RCV000523080
- ClinVar RCV002525179
- Conflicting interpretations
- Inborn genetic diseases; not provided; Acroosteolysis-keloid-like lesions-premat
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.07
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Acroosteolysis-keloid-lik)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)