V47V (p.Val47Val) variant of SFTPC (Surfactant protein C)
V47V (p.Val47Val) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V47V (p.Val47Val) variant details
- p.Val47Val
- rs764818190
- gnomAD 8-22162672-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 1.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available