R101P (p.Arg101Pro) variant of ADA (Adenosine deaminase)
R101P (p.Arg101Pro) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ADASCID. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R101P (p.Arg101Pro) variant details
- p.Arg101Pro
- ExAC rs121908714
- TOPMed rs121908714
- gnomAD rs121908714
- Pathogenic
- in ADASCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available