V68V (p.Val68Val) variant of SFTPC (Surfactant protein C)
V68V (p.Val68Val) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V68V (p.Val68Val) variant details
- p.Val68Val
- rs1253679703
- gnomAD 8-22163082-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 8.82
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available