W25C (p.Trp25Cys) variant of SFTPB (P07988)
W25C (p.Trp25Cys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
W25C (p.Trp25Cys) variant details
- p.Trp25Cys
- ExAC rs763238120
- TOPMed rs763238120
- gnomAD rs763238120
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.15
- CADD 17.40
- PolyPhen-2 0.32
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available