V48V (p.Val48Val) variant of SFTPC (Surfactant protein C)
V48V (p.Val48Val) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V48V (p.Val48Val) variant details
- p.Val48Val
- rs747210099
- gnomAD 8-22162675-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 10.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available