D40A (p.Asp40Ala) variant of BMPR1A (P36894)
D40A (p.Asp40Ala) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D40A (p.Asp40Ala) variant details
- p.Asp40Ala
- rs1060503403
- ClinGen CA16612967
- ClinVar RCV000463813
- ClinVar RCV000561127
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- AlphaMissense 0.16
- MetaLR 0.37
- MetaSVM -0.75
- CADD 23.80
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)