N48K (p.Asn48Lys) variant of ADA (Adenosine deaminase)
N48K (p.Asn48Lys) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- 1000Genomes rs189751145
- ExAC rs189751145
- TOPMed rs189751145
- gnomAD rs189751145
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.21
- CADD 0.51
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available