T65G (p.Thr65Gly) variant of SFTPC (Surfactant protein C)
T65G (p.Thr65Gly) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T65G (p.Thr65Gly) variant details
- p.Thr65Gly
- rs1405405553
- gnomAD 8-22162719-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available