P13L (p.Pro13Leu) variant of SFTPC (Surfactant protein C)
P13L (p.Pro13Leu) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SFTPC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs1827738719
- ClinGen CA370536602
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Uncertain significance
- SFTPC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (SFTPC-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available