L11R (p.Leu11Arg) variant of SFTPB (P07988)
L11R (p.Leu11Arg) in SFTPB (P07988) 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 0.54 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- TOPMed rs886056385
- gnomAD rs886056385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available