D125N (p.Asp125Asn) variant of SFTPB (P07988)
D125N (p.Asp125Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- rs140667432
- ClinGen CA1744084
- ClinVar RCV001139491
- 1000Genomes rs140667432
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.14
- CADD 11.70
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available