L14P (p.Leu14Pro) variant of SFTPB (P07988)
L14P (p.Leu14Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs886056384
- ClinGen CA10614546
- ClinVar RCV000343248
- ClinVar RCV006629136
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.52
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.11
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available