E31K (p.Glu31Lys) variant of BMPR2 (Q13873)
E31K (p.Glu31Lys) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- cosmic curated COSV10100
- TOPMed rs1085307162
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.50
- AlphaMissense 0.22
- MetaLR 0.86
- MetaSVM 0.65
- CADD 24.50
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available