S17F (p.Ser17Phe) variant of SFTPC (Surfactant protein C)
S17F (p.Ser17Phe) 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 0.77 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- NCI-TCGA Cosmic COSV5934
- cosmic curated COSV59345
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available