P57S (p.Pro57Ser) variant of BMPR1A (P36894)
P57S (p.Pro57Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- rs2133395751
- ClinGen CA377446823
- ClinVar RCV003872522
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- MetaLR 0.41
- MetaSVM -0.47
- CADD 21.50
- PolyPhen-2 0.13
- SIFT 0.17
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)