D15N (p.Asp15Asn) variant of SFTPC (Surfactant protein C)
D15N (p.Asp15Asn) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D15N (p.Asp15Asn) variant details
- p.Asp15Asn
- ESP rs376399274
- ExAC rs376399274
- gnomAD rs376399274
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available