E37D (p.Glu37Asp) variant of SFTPB (P07988)
E37D (p.Glu37Asp) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- TOPMed rs1191122215
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available