D40V (p.Asp40Val) variant of BMPR1A (P36894)
D40V (p.Asp40Val) 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 0.36 / 1. The record also includes published literature and structural context.
D40V (p.Asp40Val) variant details
- p.Asp40Val
- rs1060503403
- ClinGen CA377446506
- ClinVar RCV001914916
- TOPMed rs1060503403
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.16
- MetaLR 0.37
- MetaSVM -0.75
- PolyPhen-2 0.02
- SIFT 0.02
- 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)