Y97C (p.Tyr97Cys) variant of ADA (Adenosine deaminase)
Y97C (p.Tyr97Cys) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in ADASCID. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y97C (p.Tyr97Cys) variant details
- p.Tyr97Cys
- rs267606634
- ClinVar RCV001796713
- UniProt VAR 076954
- ExAC rs267606634
- no classification for the single variant
- in ADASCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.93
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: no classification for the single variant (in ADASCID)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment… (PMID 3304460)
- Cited in: An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact… (PMID 9361033)