P83A (p.Pro83Ala) variant of ETV5 (ETS translocation variant 5)
P83A (p.Pro83Ala) in ETV5 (ETS translocation variant 5) 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 0.40 / 1. The record also includes population frequency data.
P83A (p.Pro83Ala) variant details
- p.Pro83Ala
- TOPMed rs1412277860
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)