S46C (p.Ser46Cys) variant of PDGFRA (P16234)
S46C (p.Ser46Cys) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- Ensembl rs777307941
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -1.13
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available