V41L (p.Val41Leu) variant of SFTPC (Surfactant protein C)
V41L (p.Val41Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- gnomAD 8-22162652-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available