V47I (p.Val47Ile) variant of SFTPC (Surfactant protein C)
V47I (p.Val47Ile) 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 0.76 / 1. The record also includes population frequency data and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- rs750172249
- NCI-TCGA Cosmic COSV5934
- cosmic curated COSV59346
- ExAC rs750172249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available