P20L (p.Pro20Leu) variant of SFTPC (Surfactant protein C)
P20L (p.Pro20Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 8-22162590-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 23.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available