A71V (p.Ala71Val) variant of ADA (Adenosine deaminase)
A71V (p.Ala71Val) 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.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- ExAC rs762213530
- gnomAD rs762213530
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.28
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available