N118T (p.Asn118Thr) variant of ADA (Adenosine deaminase)
N118T (p.Asn118Thr) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N118T (p.Asn118Thr) variant details
- p.Asn118Thr
- gnomAD rs1304346114
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available