V39W (p.Val39Trp) variant of SFTPC (Surfactant protein C)
V39W (p.Val39Trp) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V39W (p.Val39Trp) variant details
- p.Val39Trp
- rs1827793776
- gnomAD 8-22162645-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 24.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available