P248S (p.Pro248Ser) variant of ABCA3 (Q99758)
P248S (p.Pro248Ser) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P248S (p.Pro248Ser) variant details
- p.Pro248Ser
- TOPMed rs2093722707
- gnomAD rs2093722707
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.75
- MetaLR 0.85
- MetaSVM 0.89
- CADD 24.50
- SIFT 0.01
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available