A89S (p.Ala89Ser) variant of ABCA3 (Q99758)
A89S (p.Ala89Ser) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A89S (p.Ala89Ser) variant details
- p.Ala89Ser
- rs150902383
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10006
- ESP rs150902383
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.56
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available