H59P (p.His59Pro) variant of TECRL (Q5HYJ1)
H59P (p.His59Pro) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
H59P (p.His59Pro) variant details
- p.His59Pro
- ESP rs149306973
- ExAC rs149306973
- TOPMed rs149306973
- gnomAD rs149306973
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.40
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available