P62L (p.Pro62Leu) variant of ATXN1 (Ataxin-1)
P62L (p.Pro62Leu) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- ESP rs377095820
- ExAC rs377095820
- TOPMed rs377095820
- gnomAD rs377095820
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available