V42V (p.Val42Val) variant of SFTPC (Surfactant protein C)
V42V (p.Val42Val) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V42V (p.Val42Val) variant details
- p.Val42Val
- gnomAD 8-22162657-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 8.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available