M56V (p.Met56Val) variant of SFTPC (Surfactant protein C)
M56V (p.Met56Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- TOPMed rs1320098621
- gnomAD rs1320098621
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available