T65M (p.Thr65Met) variant of SFTPC (Surfactant protein C)
T65M (p.Thr65Met) in SFTPC (Surfactant protein C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs547252810
- ExAC rs547252810
- TOPMed rs547252810
- gnomAD rs547252810
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available