V8V (p.Val8Val) variant of SFTPC (Surfactant protein C)
V8V (p.Val8Val) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs144603526
- gnomAD 8-22161852-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 8.22
- Most common in the Ashkenazi Jewish population (allele frequency 0.022)
- Structural context available
- Literature evidence available