F24V (p.Phe24Val) variant of TECRL (Q5HYJ1)
F24V (p.Phe24Val) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F24V (p.Phe24Val) variant details
- p.Phe24Val
- ExAC rs768133298
- TOPMed rs768133298
- gnomAD rs768133298
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 5.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available