R20Q (p.Arg20Gln) variant of ABCA3 (Q99758)
R20Q (p.Arg20Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs201777730
- ClinGen CA7841793
- ClinVar RCV001532314
- ExAC rs201777730
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.88
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available