K6Q (p.Lys6Gln) variant of SFTPC (Surfactant protein C)
K6Q (p.Lys6Gln) 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, published literature, and structural context.
K6Q (p.Lys6Gln) variant details
- p.Lys6Gln
- gnomAD 8-22161844-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available