S51C (p.Ser51Cys) variant of ETV5 (ETS translocation variant 5)
S51C (p.Ser51Cys) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- gnomAD rs1362660709
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.49
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)