A78G (p.Ala78Gly) variant of SFTPC (Surfactant protein C)
A78G (p.Ala78Gly) 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 0.49 / 1. The record also includes population frequency data and structural context.
A78G (p.Ala78Gly) variant details
- p.Ala78Gly
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10010
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 16.90
- PolyPhen-2 0.18
- SIFT 0.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available