A142D (p.Ala142Asp) variant of ETV4 (ETS translocation variant 4)
A142D (p.Ala142Asp) 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 0.21 / 1. The record also includes population frequency data.
A142D (p.Ala142Asp) variant details
- p.Ala142Asp
- ExAC rs756738915
- gnomAD rs756738915
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.08
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)