L10S (p.Leu10Ser) variant of BMPR1A (P36894)
L10S (p.Leu10Ser) 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 published literature and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- rs2133321352
- ClinGen CA377774798
- ClinVar RCV002003776
- Ensembl rs2133321352
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.40
- MetaLR 0.42
- MetaSVM -0.47
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)