P2S (p.Pro2Ser) variant of BMPR1A (P36894)
P2S (p.Pro2Ser) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs11528010
- ClinGen CA377774747
- ClinVar RCV001210826
- ClinVar RCV003473757
- Uncertain significance
- Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predi)
- EBI: Benign (in dbSNP:rs11528010)
- UniProt: Benign (in dbSNP:rs11528010)
- Population evidence available
- 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)