R98H (p.Arg98His) variant of ABCA3 (Q99758)
R98H (p.Arg98His) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
R98H (p.Arg98His) variant details
- p.Arg98His
- 1000Genomes rs149050042
- ExAC rs149050042
- TOPMed rs149050042
- gnomAD rs149050042
- Uncertain significance
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.29
- CADD 11.60
- PolyPhen-2 0.45
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available