R21P (p.Arg21Pro) variant of SFTPC (Surfactant protein C)
R21P (p.Arg21Pro) in SFTPC (Surfactant protein C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R21P (p.Arg21Pro) variant details
- p.Arg21Pro
- ESP rs371321234
- ExAC rs371321234
- TOPMed rs371321234
- gnomAD rs371321234
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available