Q130L (p.Gln130Leu) variant of SFTPB (P07988)
Q130L (p.Gln130Leu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q130L (p.Gln130Leu) variant details
- p.Gln130Leu
- gnomAD rs1677656392
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available