L11W (p.Leu11Trp) variant of BMPR1A (P36894)
L11W (p.Leu11Trp) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L11W (p.Leu11Trp) variant details
- p.Leu11Trp
- rs1842917459
- ClinGen CA377774806
- ClinVar RCV001300413
- Ensembl rs1842917459
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)