C18Y (p.Cys18Tyr) variant of SFTPB (P07988)
C18Y (p.Cys18Tyr) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- TOPMed rs1294607351
- gnomAD rs1294607351
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available