P27L (p.Pro27Leu) variant of SFTPC (Surfactant protein C)
P27L (p.Pro27Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs762396958
- gnomAD rs762396958
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available