S146P (p.Ser146Pro) variant of SETX (Helicase senataxin)
S146P (p.Ser146Pro) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S146P (p.Ser146Pro) variant details
- p.Ser146Pro
- gnomAD rs1408316133
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available