N48S (p.Asn48Ser) variant of ADA (Adenosine deaminase)
N48S (p.Asn48Ser) in ADA (Adenosine deaminase) is a missense change. 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.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- gnomAD rs1276626543
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 1.82
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available