D90N (p.Asp90Asn) variant of SFTPB (P07988)
D90N (p.Asp90Asn) in SFTPB (P07988) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
D90N (p.Asp90Asn) variant details
- p.Asp90Asn
- rs1248137913
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- TOPMed rs1248137913
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- CADD 16.50
- PolyPhen-2 0.38
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available