K34N (p.Lys34Asn) variant of SFTPC (Surfactant protein C)
K34N (p.Lys34Asn) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- gnomAD 8-22162633-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available