Q3P (p.Gln3Pro) variant of BMPR1A (P36894)
Q3P (p.Gln3Pro) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Generalized juvenile polyposis/juvenile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- rs1554886804
- ClinGen CA377774752
- ClinVar RCV000580930
- ClinVar RCV005601019
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Generalized juvenile polyposis/juvenile
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.06
- MetaLR 0.31
- MetaSVM -0.67
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Generalized juvenile po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)