P114L (p.Pro114Leu) variant of ETV4 (ETS translocation variant 4)
P114L (p.Pro114Leu) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
P114L (p.Pro114Leu) variant details
- p.Pro114Leu
- ESP rs141079631
- ExAC rs141079631
- TOPMed rs141079631
- gnomAD rs141079631
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)