P116L (p.Pro116Leu) variant of ADA (Adenosine deaminase)
P116L (p.Pro116Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P116L (p.Pro116Leu) variant details
- p.Pro116Leu
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6573
- cosmic curated COSV65739
- ExAC rs774510141
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.71
- CADD 25.30
- PolyPhen-2 0.61
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available