V21A (p.Val21Ala) variant of BMPR1A (P36894)
V21A (p.Val21Ala) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs2133321901
- ClinGen CA377774867
- ClinVar RCV003238440
- ClinVar RCV003761430
- Uncertain significance
- not provided; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.42
- MetaLR 0.30
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.78
- MutPred 0.37
- ClinVar: Uncertain significance (not provided; 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)