P55S (p.Pro55Ser) variant of SETX (Helicase senataxin)
P55S (p.Pro55Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs746388055
- NCI-TCGA Cosmic COSV9980
- ExAC rs746388055
- gnomAD rs746388055
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available