V104A (p.Val104Ala) variant of TECRL (Q5HYJ1)
V104A (p.Val104Ala) 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 0.28 / 1. The record also includes population frequency data and structural context.
V104A (p.Val104Ala) variant details
- p.Val104Ala
- rs1577879424
- ClinGen CA357145845
- ClinVar RCV004521018
- TOPMed rs1577879424
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available