V48I (p.Val48Ile) variant of BMPR1A (P36894)
V48I (p.Val48Ile) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndro. 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.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- rs775188308
- ClinGen CA5585438
- ClinVar RCV002392033
- ClinVar RCV003095149
- Uncertain significance
- not provided; Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Polyposis syndrome, hereditary mixed, 2; Juvenile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)