P13S (p.Pro13Ser) variant of ATXN1 (Ataxin-1)
P13S (p.Pro13Ser) in ATXN1 (Ataxin-1) 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.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- NCI-TCGA Cosmic COSV5520
- cosmic curated COSV55208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.48
- AlphaMissense 0.39
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available