N37S (p.Asn37Ser) variant of ATXN1 (Ataxin-1)
N37S (p.Asn37Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- ExAC rs766480685
- TOPMed rs766480685
- gnomAD rs766480685
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available