D117V (p.Asp117Val) variant of TECRL (Q5HYJ1)
D117V (p.Asp117Val) 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 0.53 / 1. The record also includes population frequency data and structural context.
D117V (p.Asp117Val) variant details
- p.Asp117Val
- ExAC rs761398203
- gnomAD rs761398203
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available