N25S (p.Asn25Ser) variant of BMPR1A (P36894)
N25S (p.Asn25Ser) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; not provided; Polyposis syndrome, hereditary mixed. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- rs1060503410
- ClinGen CA16613192
- ClinVar RCV000463279
- ClinVar RCV000487317
- Conflicting interpretations
- Juvenile polyposis syndrome; not provided; Polyposis syndrome, hereditary mixed
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.25
- AlphaMissense 0.24
- MetaLR 0.33
- MetaSVM -0.67
- CADD 18.50
- PolyPhen-2 0.05
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; not provided; Polyposis syndrome, h)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)