P116H (p.Pro116His) variant of ADA (Adenosine deaminase)
P116H (p.Pro116His) 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 0.67 / 1. The record also includes population frequency data and structural context.
P116H (p.Pro116His) variant details
- p.Pro116His
- rs774510141
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10086
- NCI-TCGA Cosmic COSV6573
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.72
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available