D118N (p.Asp118Asn) variant of SFTPB (P07988)
D118N (p.Asp118Asn) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D118N (p.Asp118Asn) variant details
- p.Asp118Asn
- rs45557339
- ClinGen CA1744090
- cosmic curated COSV60892
- ClinVar RCV000758242
- Uncertain significance
- not provided; Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmon
- Missense
- Variant Prioritization Score for Impact Estimate 0.0634
- REVEL 0.06
- CADD 0.03
- PolyPhen-2 0.05
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Surfactant metabolism dysfunction, pulmonary, 1; H)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available