P76S (p.Pro76Ser) variant of SFTPC (Surfactant protein C)
P76S (p.Pro76Ser) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- gnomAD 8-22163104-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 6.95
- PolyPhen-2 0.10
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available