V44del (p.Val44del) variant of SFTPC (Surfactant protein C)
V44del (p.Val44del) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V44del (p.Val44del) variant details
- rs752666425
- gnomAD 8-22162645-CGTG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 19.70
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available