S21C (p.Ser21Cys) variant of ADA (Adenosine deaminase)
S21C (p.Ser21Cys) 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.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- ExAC rs765144557
- gnomAD rs765144557
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available