E37K (p.Glu37Lys) variant of SFTPB (P07988)
E37K (p.Glu37Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- ExAC rs776744560
- gnomAD rs776744560
- Missense
- Variant Prioritization Score for Impact Estimate 0.0851
- REVEL 0.05
- CADD 9.60
- PolyPhen-2 0.04
- SIFT 0.48
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available