P13P (p.Pro13Pro) variant of SFTPC (Surfactant protein C)
P13P (p.Pro13Pro) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs532360636
- gnomAD 8-22161867-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.40
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Literature evidence available