I4L (p.Ile4Leu) variant of ATXN3 (Ataxin-3)
I4L (p.Ile4Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
I4L (p.Ile4Leu) variant details
- p.Ile4Leu
- Ensembl rs1596104708
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 32.00
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)