R20H (p.Arg20His) variant of BMPR1A (P36894)
R20H (p.Arg20His) 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; Hereditary cancer-predisposing syndrome; not specif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs759014147
- ClinGen CA348993
- ClinVar RCV000213165
- ClinVar RCV002228947
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.14
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.93
- CADD 3.35
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- 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)