R31I (p.Arg31Ile) variant of TECRL (Q5HYJ1)
R31I (p.Arg31Ile) 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 0.21 / 1. The record also includes population frequency data and structural context.
R31I (p.Arg31Ile) variant details
- p.Arg31Ile
- rs764415896
- ClinGen CA2935697
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67086
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.9e-05)
- Structural context available