E99D (p.Glu99Asp) variant of SFTPB (P07988)
E99D (p.Glu99Asp) 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.
E99D (p.Glu99Asp) variant details
- p.Glu99Asp
- 1000Genomes rs189048961
- ExAC rs189048961
- TOPMed rs189048961
- gnomAD rs189048961
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.16
- CADD 8.27
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available