L58P (p.Leu58Pro) variant of SFTPC (Surfactant protein C)
L58P (p.Leu58Pro) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L58P (p.Leu58Pro) variant details
- p.Leu58Pro
- gnomAD 8-22162704-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available