D74N (p.Asp74Asn) variant of SFTPB (P07988)
D74N (p.Asp74Asn) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D74N (p.Asp74Asn) variant details
- p.Asp74Asn
- TOPMed rs1018017556
- gnomAD rs1018017556
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- CADD 16.50
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available