G130V (p.Gly130Val) variant of ETV5 (ETS translocation variant 5)
G130V (p.Gly130Val) 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 0.48 / 1. The record also includes population frequency data.
G130V (p.Gly130Val) variant details
- p.Gly130Val
- cosmic curated COSV10462
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)