I50T (p.Ile50Thr) variant of SFTPC (Surfactant protein C)
I50T (p.Ile50Thr) 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.
I50T (p.Ile50Thr) variant details
- p.Ile50Thr
- gnomAD rs1172658254
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.20
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available