V100L (p.Val100Leu) variant of ADA (Adenosine deaminase)
V100L (p.Val100Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- gnomAD rs1386689344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available