G64E (p.Gly64Glu) variant of SFTPB (P07988)
G64E (p.Gly64Glu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- ExAC rs764512527
- gnomAD rs764512527
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.07
- CADD 7.81
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available