P55L (p.Pro55Leu) variant of ADA (Adenosine deaminase)
P55L (p.Pro55Leu) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- cosmic curated COSV65740
- ExAC rs77588173
- TOPMed rs77588173
- gnomAD rs77588173
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.71
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.0014)
- Structural context available