S26N (p.Ser26Asn) variant of ETV6 (Transcription factor ETV6)
S26N (p.Ser26Asn) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S26N (p.Ser26Asn) variant details
- p.Ser26Asn
- gnomAD 12-11752493-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available