N109D (p.Asn109Asp) variant of ADA (Adenosine deaminase)
N109D (p.Asn109Asp) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N109D (p.Asn109Asp) variant details
- p.Asn109Asp
- TOPMed rs1163585601
- gnomAD rs1163585601
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available