E99K (p.Glu99Lys) variant of SFTPB (P07988)
E99K (p.Glu99Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E99K (p.Glu99Lys) variant details
- p.Glu99Lys
- TOPMed rs1351865587
- gnomAD rs1351865587
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.49
- CADD 17.30
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available