M56T (p.Met56Thr) variant of SFTPC (Surfactant protein C)
M56T (p.Met56Thr) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- TOPMed rs1047415320
- gnomAD rs1047415320
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available