N9K (p.Asn9Lys) variant of ATXN1 (Ataxin-1)
N9K (p.Asn9Lys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N9K (p.Asn9Lys) variant details
- p.Asn9Lys
- ExAC rs759716662
- TOPMed rs759716662
- gnomAD rs759716662
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.15
- AlphaMissense 0.20
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.30
- PolyPhen-2 0.02
- Population evidence available
- Structural context available