Y30H (p.Tyr30His) variant of ADA (Adenosine deaminase)
Y30H (p.Tyr30His) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- rs775324175
- ClinGen CA9871779
- ClinVar RCV001844692
- ExAC rs775324175
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.59
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available