Y7S (p.Tyr7Ser) variant of BMPR1A (P36894)
Y7S (p.Tyr7Ser) 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 0.39 / 1. The record also includes published literature and structural context.
Y7S (p.Tyr7Ser) variant details
- p.Tyr7Ser
- rs993642453
- ClinGen CA377774779
- ClinVar RCV002991485
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.35
- 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)