E44K (p.Glu44Lys) variant of SFTPB (P07988)
E44K (p.Glu44Lys) 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.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- TOPMed rs979480452
- gnomAD rs979480452
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available