P109L (p.Pro109Leu) variant of ATXN1 (Ataxin-1)
P109L (p.Pro109Leu) 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 0.53 / 1. The record also includes population frequency data and structural context.
P109L (p.Pro109Leu) variant details
- p.Pro109Leu
- rs752493191
- NCI-TCGA Cosmic COSV5522
- cosmic curated COSV55228
- ExAC rs752493191
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available