P249L (p.Pro249Leu) variant of ABCA3 (Q99758)
P249L (p.Pro249Leu) 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 0.67 / 1. The record also includes population frequency data and structural context.
P249L (p.Pro249Leu) variant details
- p.Pro249Leu
- cosmic curated COSV57053
- ExAC rs774112981
- gnomAD rs774112981
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.58
- MetaLR 0.84
- MetaSVM 0.86
- CADD 21.70
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available