S51N (p.Ser51Asn) variant of ETV5 (ETS translocation variant 5)
S51N (p.Ser51Asn) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- gnomAD rs1304164243
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.31
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)