W9L (p.Trp9Leu) variant of SFTPB (P07988)
W9L (p.Trp9Leu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
W9L (p.Trp9Leu) variant details
- p.Trp9Leu
- TOPMed rs1226457777
- gnomAD rs1226457777
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.26
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available