I38V (p.Ile38Val) variant of SFTPC (Surfactant protein C)
I38V (p.Ile38Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- TOPMed rs934921398
- gnomAD rs934921398
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available