V43M (p.Val43Met) variant of SFTPC (Surfactant protein C)
V43M (p.Val43Met) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- gnomAD 8-22162658-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available