Y95* (p.Tyr95Ter) variant of KCNQ2 (O43526)
Y95* (p.Tyr95Ter) in KCNQ2 (O43526) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y95* (p.Tyr95Ter) variant details
- p.Tyr95Ter
- rs1555881741
- ClinGen CA409634993
- ClinVar RCV000518946
- ClinVar RCV006362410
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)