P76Q (p.Pro76Gln) variant of SFTPC (Surfactant protein C)
P76Q (p.Pro76Gln) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P76Q (p.Pro76Gln) variant details
- p.Pro76Gln
- ExAC rs201454136
- TOPMed rs201454136
- gnomAD rs201454136
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 16.00
- PolyPhen-2 0.96
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available