E73K (p.Glu73Lys) variant of SFTPB (P07988)
E73K (p.Glu73Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- 1000Genomes rs541110574
- ExAC rs541110574
- TOPMed rs541110574
- gnomAD rs541110574
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.30
- CADD 13.30
- PolyPhen-2 0.10
- SIFT 0.49
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available