G75E (p.Gly75Glu) variant of BMPR2 (Q13873)
G75E (p.Gly75Glu) in BMPR2 (Q13873) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- NCI-TCGA Cosmic COSV6580
- cosmic curated COSV65807
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.91
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available