N109K (p.Asn109Lys) variant of ADA (Adenosine deaminase)
N109K (p.Asn109Lys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N109K (p.Asn109Lys) variant details
- p.Asn109Lys
- gnomAD rs1483743360
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available