P113H (p.Pro113His) variant of TECRL (Q5HYJ1)
P113H (p.Pro113His) 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 0.27 / 1. The record also includes population frequency data and structural context.
P113H (p.Pro113His) variant details
- p.Pro113His
- rs1474037096
- ClinGen CA357144887
- ClinVar RCV003187108
- gnomAD rs1474037096
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.70
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available