M35V (p.Met35Val) variant of BMPR1A (P36894)
M35V (p.Met35Val) 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; Polyposis. 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.
M35V (p.Met35Val) variant details
- p.Met35Val
- rs1043850286
- ClinGen CA211182728
- ClinVar RCV001315274
- ClinVar RCV002395673
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.16
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)