R20W (p.Arg20Trp) variant of ABCA3 (Q99758)
R20W (p.Arg20Trp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- ESP rs145242436
- ExAC rs145242436
- TOPMed rs145242436
- gnomAD rs145242436
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available