C55Y (p.Cys55Tyr) variant of SFTPB (P07988)
C55Y (p.Cys55Tyr) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C55Y (p.Cys55Tyr) variant details
- p.Cys55Tyr
- ExAC rs779741450
- gnomAD rs779741450
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.80
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available