L27S (p.Leu27Ser) variant of PDGFRA (P16234)
L27S (p.Leu27Ser) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- rs758425314
- ClinGen CA2922228
- ClinVar RCV001027180
- ExAC rs758425314
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.02
- CADD 17.60
- PolyPhen-2 0.42
- SIFT 0.59
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)