V48L (p.Val48Leu) variant of SFTPC (Surfactant protein C)
V48L (p.Val48Leu) in SFTPC (Surfactant protein C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- 1000Genomes rs566914013
- ExAC rs566914013
- TOPMed rs566914013
- gnomAD rs566914013
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available