K36T (p.Lys36Thr) variant of BMPR1A (P36894)
K36T (p.Lys36Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
K36T (p.Lys36Thr) variant details
- p.Lys36Thr
- rs1564714779
- ClinGen CA377446416
- ClinVar RCV000776991
- ClinVar RCV001869115
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.20
- MetaLR 0.60
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.27
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)