Q130E (p.Gln130Glu) variant of SFTPB (P07988)
Q130E (p.Gln130Glu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q130E (p.Gln130Glu) variant details
- p.Gln130Glu
- ExAC rs753771008
- gnomAD rs753771008
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.42
- SIFT 0.09
- Population evidence available
- Structural context available