D77H (p.Asp77His) variant of TECRL (Q5HYJ1)
D77H (p.Asp77His) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D77H (p.Asp77His) variant details
- p.Asp77His
- rs1187463858
- ClinGen CA357148611
- cosmic curated COSV99059
- ClinVar RCV003310679
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available