W25L (p.Trp25Leu) variant of SFTPB (P07988)
W25L (p.Trp25Leu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
W25L (p.Trp25Leu) variant details
- p.Trp25Leu
- 1000Genomes rs561295206
- ExAC rs561295206
- gnomAD rs561295206
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- CADD 12.80
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available