R98C (p.Arg98Cys) variant of ABCA3 (Q99758)
R98C (p.Arg98Cys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- rs746902527
- ClinGen CA7841744
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57052
- Uncertain significance
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.31
- CADD 17.20
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available