A1070T (p.Ala1070Thr) variant of ABCA3 (Q99758)
A1070T (p.Ala1070Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A1070T (p.Ala1070Thr) variant details
- p.Ala1070Thr
- rs1165435486
- ClinGen CA394319492
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57061
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available