P124L (p.Pro124Leu) variant of ATXN1 (Ataxin-1)
P124L (p.Pro124Leu) in ATXN1 (Ataxin-1) 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.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- gnomAD rs1255400842
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.34
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available