D117E (p.Asp117Glu) variant of SFTPB (P07988)
D117E (p.Asp117Glu) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
D117E (p.Asp117Glu) variant details
- p.Asp117Glu
- ESP rs147417469
- ExAC rs147417469
- TOPMed rs147417469
- gnomAD rs147417469
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.15
- CADD 2.13
- PolyPhen-2 0.08
- SIFT 0.22
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available