L1226P (p.Leu1226Pro) variant of ABCA3 (Q99758)
L1226P (p.Leu1226Pro) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, 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 0.78 / 1. The record also includes population frequency data and structural context.
L1226P (p.Leu1226Pro) variant details
- p.Leu1226Pro
- rs1301223664
- ClinGen CA394315201
- ClinVar RCV001255702
- TOPMed rs1301223664
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 29.60
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available