P14P (p.Pro14Pro) variant of SFTPC (Surfactant protein C)
P14P (p.Pro14Pro) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P14P (p.Pro14Pro) variant details
- p.Pro14Pro
- rs199905878
- gnomAD 8-22161870-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 21.20
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Literature evidence available