M35K (p.Met35Lys) variant of BMPR1A (P36894)
M35K (p.Met35Lys) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M35K (p.Met35Lys) variant details
- p.Met35Lys
- rs2133394661
- ClinGen CA377446388
- ClinVar RCV002018508
- Ensembl rs2133394661
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.35
- AlphaMissense 0.39
- MetaLR 0.31
- MetaSVM -0.67
- CADD 20.60
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- 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)