V44L (p.Val44Leu) variant of SFTPC (Surfactant protein C)
V44L (p.Val44Leu) 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.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- gnomAD 8-22162661-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available