A89T (p.Ala89Thr) variant of ABCA3 (Q99758)
A89T (p.Ala89Thr) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- rs150902383
- ClinGen CA7841754
- ClinVar RCV001121935
- ESP rs150902383
- Uncertain significance
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.24
- CADD 18.50
- PolyPhen-2 0.07
- SIFT 0.42
- ClinVar: Uncertain significance (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available