Q72H (p.Gln72His) variant of TECRL (Q5HYJ1)
Q72H (p.Gln72His) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q72H (p.Gln72His) variant details
- p.Gln72His
- rs375333770
- ClinGen CA2935670
- cosmic curated COSV67086
- ClinVar RCV002432717
- Uncertain significance
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.17
- ESM-1b 0.47
- AlphaMissense 0.30
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available