L11P (p.Leu11Pro) variant of SFTPB (P07988)
L11P (p.Leu11Pro) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs886056385
- ClinGen CA10616378
- ClinVar RCV000379167
- ClinVar RCV003168512
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available