R35R (p.Arg35Arg) variant of SFTPC (Surfactant protein C)
R35R (p.Arg35Arg) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R35R (p.Arg35Arg) variant details
- p.Arg35Arg
- rs1178465970
- gnomAD 8-22162636-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 12.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available