R35C (p.Arg35Cys) variant of SFTPC (Surfactant protein C)
R35C (p.Arg35Cys) in SFTPC (Surfactant protein C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- rs199854076
- cosmic curated COSV59345
- 1000Genomes rs199854076
- ESP rs199854076
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available