Q62K (p.Gln62Lys) variant of SFTPC (Surfactant protein C)
Q62K (p.Gln62Lys) 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.
Q62K (p.Gln62Lys) variant details
- p.Gln62Lys
- gnomAD 8-22162715-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available