V43L (p.Val43Leu) variant of SFTPC (Surfactant protein C)
V43L (p.Val43Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- gnomAD rs1827794474
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 22.00
- PolyPhen-2 0.38
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available