K80R (p.Lys80Arg) variant of ADA (Adenosine deaminase)
K80R (p.Lys80Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K80R (p.Lys80Arg) variant details
- p.Lys80Arg
- rs11555566
- ClinGen CA251993
- cosmic curated COSV65739
- ClinVar RCV000002031
- Benign
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.29
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.38
- ClinVar: Benign (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Benign (in dbSNP:rs11555566)
- UniProt: Benign (in dbSNP:rs11555566)
- Most common in the 1KG:LWK population (allele frequency 0.16)
- Structural context available
- Cited in: Carrier testing for severe childhood recessive diseases by next-generation sequencing. (PMID 21228398)
- Cited in: One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing… (PMID 3007108)