K94N (p.Lys94Asn) variant of SFTPB (P07988)
K94N (p.Lys94Asn) 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 0.28 / 1. The record also includes population frequency data and structural context.
K94N (p.Lys94Asn) variant details
- p.Lys94Asn
- ExAC rs751745613
- TOPMed rs751745613
- gnomAD rs751745613
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available