L45F (p.Leu45Phe) variant of SFTPC (Surfactant protein C)
L45F (p.Leu45Phe) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- gnomAD 8-22162664-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available