Y7C (p.Tyr7Cys) variant of BMPR1A (P36894)
Y7C (p.Tyr7Cys) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs993642453
- ClinGen CA211238807
- ClinVar RCV003331838
- ClinVar RCV006613021
- Uncertain significance
- not specified; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.20
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.54
- CADD 19.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified; Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)