V44I (p.Val44Ile) variant of SFTPC (Surfactant protein C)
V44I (p.Val44Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- ExAC rs757152791
- gnomAD rs757152791
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available