P30T (p.Pro30Thr) variant of SFTPC (Surfactant protein C)
P30T (p.Pro30Thr) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD 8-22162619-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available