p.Val44dup variant of SFTPC (Surfactant protein C)
p.Val44dup in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val44dup variant details
- rs752666425
- gnomAD 8-22162645-C-CGTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 15.80
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available